Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
This document summarizes lysosomal storage diseases (LSDs), which are caused by defects in lysosomal proteins leading to substrate accumulation. LSDs include over 50 disorders categorized by substrate stored. While rare, treatment involves hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, chaperones, and gene therapy. Management requires a multidisciplinary team and monitoring for medical and psychosocial effects. The guideline provides diagnostic and treatment guidance for identifying LSDs through newborn screening.
Lysosomal storage diseases (LSDs) are a group of over 50 inherited metabolic disorders caused by defects in lysosomal function. The main types are sphingolipidoses, mucopolysaccharidoses, and glycoproteinoses. Symptoms often involve the brain and nervous system. On MRI, the corpus callosum may be not visualized or partially visualized in some LSDs. Histopathology reveals neuronal storage material, spheroids in white matter, and membranous cytoplasmic bodies in neurons. LSDs can also affect dogs and cats, with clinical signs appearing in early life and pathology showing tissue storage.
Gaucher disease is a lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase, leading to a buildup of glucocerebroside in cells. There are three main types of Gaucher disease: type I is the most common non-neurological form, type II is fatal in infants, and type III involves neurological symptoms. The disease is caused by mutations in the GBA gene encoding glucocerebrosidase. Over 150 mutations have been identified, with four accounting for 95% of cases in Ashkenazi Jews. Treatment options include enzyme replacement therapy, bone marrow transplantation, and chemical chaperones.
Lipid storage diseases are a group of inherited metabolic disorders where lipids accumulate abnormally in cells and tissues due to deficiencies in lipid-metabolizing enzymes. This excess lipid storage can damage organs like the brain, liver, and spleen over time. The most common type is Gaucher disease, caused by a glucocerebrosidase enzyme deficiency leading to glucocerebroside accumulation in the spleen, liver, and bone marrow. Other types include Niemann-Pick disease, Fabry disease, and Tay-Sachs disease. While some forms can be treated through enzyme replacement therapy, most have no cure and treatment focuses on managing symptoms.
Lipid storage diseases are a group of inherited metabolic disorders caused by deficiencies of enzymes involved in metabolizing lipids. This leads to harmful accumulation of fatty materials called lipids in cells and tissues over time, damaging organs like the brain, liver, and bone marrow. The document discusses several specific lipid storage diseases including Gaucher disease, Niemann-Pick disease, Fabry disease, and others; their causes, signs and symptoms, methods of diagnosis, and available treatments are summarized for each one.
Lipid storage diseases are a group of inherited metabolic disorders caused by deficiencies of enzymes needed to metabolize lipids. This leads to harmful accumulation of fatty materials in cells and tissues over time, damaging the brain, nerves, liver, spleen, and bone marrow. The document discusses several specific lipid storage diseases - Gaucher disease, Niemann-Pick disease, Fabry disease, Farber's disease, Krabbe disease, metachromatic leukodystrophy, and gangliosidosis - outlining their causes, clinical features, inheritance patterns, treatments, and prognosis.
Glycogen storage disease is a group of metabolic disorders caused by the body's inability to properly store glycogen. There are several types classified by the enzyme deficiency. Type I involves the liver and causes low blood sugar and high lactate levels. Type III is caused by a debranching enzyme deficiency and results in an enlarged liver and low blood sugar. Type IV is a branching enzyme deficiency leading to liver enlargement and cirrhosis. Treatment focuses on managing symptoms and in some cases enzyme replacement therapy.
Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
This document summarizes lysosomal storage diseases (LSDs), which are caused by defects in lysosomal proteins leading to substrate accumulation. LSDs include over 50 disorders categorized by substrate stored. While rare, treatment involves hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, chaperones, and gene therapy. Management requires a multidisciplinary team and monitoring for medical and psychosocial effects. The guideline provides diagnostic and treatment guidance for identifying LSDs through newborn screening.
Lysosomal storage diseases (LSDs) are a group of over 50 inherited metabolic disorders caused by defects in lysosomal function. The main types are sphingolipidoses, mucopolysaccharidoses, and glycoproteinoses. Symptoms often involve the brain and nervous system. On MRI, the corpus callosum may be not visualized or partially visualized in some LSDs. Histopathology reveals neuronal storage material, spheroids in white matter, and membranous cytoplasmic bodies in neurons. LSDs can also affect dogs and cats, with clinical signs appearing in early life and pathology showing tissue storage.
Gaucher disease is a lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase, leading to a buildup of glucocerebroside in cells. There are three main types of Gaucher disease: type I is the most common non-neurological form, type II is fatal in infants, and type III involves neurological symptoms. The disease is caused by mutations in the GBA gene encoding glucocerebrosidase. Over 150 mutations have been identified, with four accounting for 95% of cases in Ashkenazi Jews. Treatment options include enzyme replacement therapy, bone marrow transplantation, and chemical chaperones.
Lipid storage diseases are a group of inherited metabolic disorders where lipids accumulate abnormally in cells and tissues due to deficiencies in lipid-metabolizing enzymes. This excess lipid storage can damage organs like the brain, liver, and spleen over time. The most common type is Gaucher disease, caused by a glucocerebrosidase enzyme deficiency leading to glucocerebroside accumulation in the spleen, liver, and bone marrow. Other types include Niemann-Pick disease, Fabry disease, and Tay-Sachs disease. While some forms can be treated through enzyme replacement therapy, most have no cure and treatment focuses on managing symptoms.
Lipid storage diseases are a group of inherited metabolic disorders caused by deficiencies of enzymes involved in metabolizing lipids. This leads to harmful accumulation of fatty materials called lipids in cells and tissues over time, damaging organs like the brain, liver, and bone marrow. The document discusses several specific lipid storage diseases including Gaucher disease, Niemann-Pick disease, Fabry disease, and others; their causes, signs and symptoms, methods of diagnosis, and available treatments are summarized for each one.
Lipid storage diseases are a group of inherited metabolic disorders caused by deficiencies of enzymes needed to metabolize lipids. This leads to harmful accumulation of fatty materials in cells and tissues over time, damaging the brain, nerves, liver, spleen, and bone marrow. The document discusses several specific lipid storage diseases - Gaucher disease, Niemann-Pick disease, Fabry disease, Farber's disease, Krabbe disease, metachromatic leukodystrophy, and gangliosidosis - outlining their causes, clinical features, inheritance patterns, treatments, and prognosis.
Glycogen storage disease is a group of metabolic disorders caused by the body's inability to properly store glycogen. There are several types classified by the enzyme deficiency. Type I involves the liver and causes low blood sugar and high lactate levels. Type III is caused by a debranching enzyme deficiency and results in an enlarged liver and low blood sugar. Type IV is a branching enzyme deficiency leading to liver enlargement and cirrhosis. Treatment focuses on managing symptoms and in some cases enzyme replacement therapy.
This document summarizes several lipid storage diseases: Tay Sachs disease results from hexosaminidase A deficiency leading to ganglioside accumulation and is classified based on neurological symptom onset. Gaucher disease stems from glucocerebrosidase deficiency causing glucosylceramide storage in reticuloendothelial cells. Niemann Pick disease types A and B involve sphingomyelin accumulation in the liver, spleen, and bone marrow due to different enzymes. Several other diseases are mentioned that involve deficiencies in enzymes responsible for degrading specific lipids.
B.sc. microbiology biotech ii cell biology and genetics unit 1 fundamentals o...Rai University
The document discusses the key components and structures of the cell. It begins by defining the cell as the basic unit of life and describes the early cell theory developed in the 1830s-1860s. It then outlines the modern cell theory, which includes four additional statements about DNA, chemical composition, metabolic functions, and organelle activities. The rest of the document provides details on the characteristics, sizes, and types of cells, as well as descriptions of the main organelles and structures found within plant and animal cells, including their functions.
This document summarizes the cell biology of lysosomal storage disorders. Lysosomal storage disorders are caused by defective lysosomal proteins, which results in the accumulation of undegraded metabolites inside lysosomes. Over 40 lysosomal storage disorders are known. The document discusses the biochemistry of these disorders and examines the downstream cellular pathways affected by the initial accumulation of metabolites in lysosomes that ultimately lead to pathology.
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms.
This document discusses sphingolipidoses, a class of rare genetic disorders caused by the accumulation of metabolites from complex lipids within neurons. Sphingolipidoses are characterized by progressive nervous system degeneration leading to symptoms like blindness, dementia, and paralysis. A cherry-red spot in the macula is a common sign seen during ophthalmologic examination, which can provide an important clue to diagnosis. Gangliosidoses are a type of sphingolipidosis caused by deficiencies in lysosomal enzymes involved in ganglioside metabolism, resulting in the storage of certain gangliosides in neurons and neurological deterioration. These disorders are ultimately fatal as there are currently no effective treatments available.
Lysosomes are spherical organelles that contain digestive enzymes called hydrolases. They are produced in the Golgi apparatus and contain hydrolytic enzymes that help break down macromolecules through processes like phagocytosis, endocytosis, and autophagy. Lysosomes function to digest cellular waste and debris and are sometimes referred to as the cell's "garbage disposal" or "recycling unit." Diseases can occur if lysosomal enzymes do not function properly or reach the lysosome, preventing the breakdown of cellular components and leading to their accumulation.
Glycogen storage diseases are caused by defects in glycogen synthesis or breakdown. There are several types affecting the liver or muscle. Type I is caused by glucose-6-phosphatase deficiency leading to liver enlargement and low blood sugar during fasting. Type III involves a debranching enzyme defect causing swollen abdomen and muscle weakness. Type VI deficiency of liver phosphorylase causes hepatomegaly, hypoglycemia, and growth issues. Symptoms, diagnosis, and treatments vary depending on the specific enzyme deficiency and tissues involved.
Lysosomes are membrane-bound organelles found in animal and plant cells that contain digestive enzymes. They were discovered in 1955 and play key roles in breaking down materials through autophagy, heterophagy, cell death pathways, and more. Lysosomes produce hydrolase enzymes and maintain an acidic interior environment needed for enzymatic reactions. They receive enzymes from the endoplasmic reticulum and Golgi apparatus and digest extracellular and intracellular cargo through membrane fusion events.
Glycogen storage disorders are a group of inherited metabolic disorders caused by deficiencies in enzymes involved in glycogen synthesis or breakdown. There are several types classified by the affected enzyme and tissue. Type I, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency affecting the liver and kidneys, leading to organ enlargement, high lactate levels, and gout. Type II, Pompe's disease, results from acid maltase deficiency impacting many tissues including heart, liver, and muscles. Symptoms range from cardiac failure in infants to late-onset muscle weakness. Treatment may include enzyme replacement therapy or diet modification.
Gaucher disease is a multisystemic lipidosis characterized by hematologic abnormalities, organomegaly, and skeletal involvement. There are three clinical subtypes delineated by the absence or presence and progression of neurologic manifestations. Treatment of type 1 includes enzyme replacement therapy to reverse symptoms. Types 2 and 3 also involve neurologic deterioration and have a poorer prognosis, though enzyme replacement may help with visceral symptoms in type 3.
This document summarizes four lysosomal storage disorders: Niemann-Pick disease, Gaucher's disease, Krabbe's disease, and Farber's disease. Each disease is caused by a defect in an enzyme involved in sphingolipid metabolism, leading to accumulation of specific sphingolipids in tissues. The diseases are characterized by organomegaly, skeletal abnormalities, dermatological issues, neurological impairment, and early mortality.
This document summarizes lipid transport and storage. It discusses the structure of the small intestine and how triglycerides are packed and transported via chylomicrons through the lymphatic system and blood circulation to tissues like liver, muscle and adipose tissue. It also outlines the roles of various apolipoproteins involved in lipid transport, including ApoA, ApoB, ApoC, ApoD and ApoE. Finally, it briefly mentions disorders related to lipid transport and recommended textbooks for further reading on the topic.
Definition:
Many childhood conditions are caused by gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized.
The functional ability of protein, whether it is an enzyme, receptors, transport vehicle, membrane, or structural element, may be relatively or seriously compromised.
These hereditary biochemical disorders are collectively termed as ‘’Inborn errors of metabolism’’
This document defines and classifies different types of lipoproteins. It discusses lipoproteins' roles in transporting lipids like triglycerides and cholesterol through the bloodstream. The main lipoproteins described are chylomicrons, VLDL, IDL, LDL, and HDL. Chylomicrons and VLDL transport lipids from the intestine and liver to tissues. Their triglycerides are broken down by lipoprotein lipase, forming chylomicron/VLDL remnants taken up by the liver. LDL transports cholesterol to tissues, while HDL transports excess cholesterol from tissues back to the liver in reverse transport.
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
This document discusses various disorders of lipid metabolism. It begins by describing Fredrickson's classification of hyperlipidemias. It then discusses specific disorders in more detail, including chylomicron syndrome, familial hypercholesterolemia, familial defective apoB3500, familial combined hyperlipidemia, familial hypertriglyceridemia, type III hyperlipoproteinemia, and polygenic hypercholesterolemia. For each disorder, it provides information on prevalence, genetic factors, clinical presentation, diagnostic criteria, and treatment approaches.
Mucopolysaccharidoses are hereditary lysosomal storage disorders caused by deficiencies in enzymes that break down glycosaminoglycans. This results in glycosaminoglycan accumulation in tissues and organs, leading to symptoms like facial abnormalities, short stature, corneal clouding, developmental delays, bone deformities, organ enlargement, and neurological issues. Diagnosis involves testing urine for glycosaminoglycan levels and measuring enzyme activity levels. Treatment focuses on managing symptoms through supportive care, physical therapy, surgeries, and enzyme replacement therapy or hematopoietic stem cell transplantation to reduce clinical effects.
Gender and Mental Health - Counselling and Family Therapy Applications and In...PsychoTech Services
A proprietary approach developed by bringing together the best of learning theories from Psychology, design principles from the world of visualization, and pedagogical methods from over a decade of training experience, that enables you to: Learn better, faster!
Leveraging Generative AI to Drive Nonprofit InnovationTechSoup
In this webinar, participants learned how to utilize Generative AI to streamline operations and elevate member engagement. Amazon Web Service experts provided a customer specific use cases and dived into low/no-code tools that are quick and easy to deploy through Amazon Web Service (AWS.)
This document summarizes several lipid storage diseases: Tay Sachs disease results from hexosaminidase A deficiency leading to ganglioside accumulation and is classified based on neurological symptom onset. Gaucher disease stems from glucocerebrosidase deficiency causing glucosylceramide storage in reticuloendothelial cells. Niemann Pick disease types A and B involve sphingomyelin accumulation in the liver, spleen, and bone marrow due to different enzymes. Several other diseases are mentioned that involve deficiencies in enzymes responsible for degrading specific lipids.
B.sc. microbiology biotech ii cell biology and genetics unit 1 fundamentals o...Rai University
The document discusses the key components and structures of the cell. It begins by defining the cell as the basic unit of life and describes the early cell theory developed in the 1830s-1860s. It then outlines the modern cell theory, which includes four additional statements about DNA, chemical composition, metabolic functions, and organelle activities. The rest of the document provides details on the characteristics, sizes, and types of cells, as well as descriptions of the main organelles and structures found within plant and animal cells, including their functions.
This document summarizes the cell biology of lysosomal storage disorders. Lysosomal storage disorders are caused by defective lysosomal proteins, which results in the accumulation of undegraded metabolites inside lysosomes. Over 40 lysosomal storage disorders are known. The document discusses the biochemistry of these disorders and examines the downstream cellular pathways affected by the initial accumulation of metabolites in lysosomes that ultimately lead to pathology.
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms.
This document discusses sphingolipidoses, a class of rare genetic disorders caused by the accumulation of metabolites from complex lipids within neurons. Sphingolipidoses are characterized by progressive nervous system degeneration leading to symptoms like blindness, dementia, and paralysis. A cherry-red spot in the macula is a common sign seen during ophthalmologic examination, which can provide an important clue to diagnosis. Gangliosidoses are a type of sphingolipidosis caused by deficiencies in lysosomal enzymes involved in ganglioside metabolism, resulting in the storage of certain gangliosides in neurons and neurological deterioration. These disorders are ultimately fatal as there are currently no effective treatments available.
Lysosomes are spherical organelles that contain digestive enzymes called hydrolases. They are produced in the Golgi apparatus and contain hydrolytic enzymes that help break down macromolecules through processes like phagocytosis, endocytosis, and autophagy. Lysosomes function to digest cellular waste and debris and are sometimes referred to as the cell's "garbage disposal" or "recycling unit." Diseases can occur if lysosomal enzymes do not function properly or reach the lysosome, preventing the breakdown of cellular components and leading to their accumulation.
Glycogen storage diseases are caused by defects in glycogen synthesis or breakdown. There are several types affecting the liver or muscle. Type I is caused by glucose-6-phosphatase deficiency leading to liver enlargement and low blood sugar during fasting. Type III involves a debranching enzyme defect causing swollen abdomen and muscle weakness. Type VI deficiency of liver phosphorylase causes hepatomegaly, hypoglycemia, and growth issues. Symptoms, diagnosis, and treatments vary depending on the specific enzyme deficiency and tissues involved.
Lysosomes are membrane-bound organelles found in animal and plant cells that contain digestive enzymes. They were discovered in 1955 and play key roles in breaking down materials through autophagy, heterophagy, cell death pathways, and more. Lysosomes produce hydrolase enzymes and maintain an acidic interior environment needed for enzymatic reactions. They receive enzymes from the endoplasmic reticulum and Golgi apparatus and digest extracellular and intracellular cargo through membrane fusion events.
Glycogen storage disorders are a group of inherited metabolic disorders caused by deficiencies in enzymes involved in glycogen synthesis or breakdown. There are several types classified by the affected enzyme and tissue. Type I, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency affecting the liver and kidneys, leading to organ enlargement, high lactate levels, and gout. Type II, Pompe's disease, results from acid maltase deficiency impacting many tissues including heart, liver, and muscles. Symptoms range from cardiac failure in infants to late-onset muscle weakness. Treatment may include enzyme replacement therapy or diet modification.
Gaucher disease is a multisystemic lipidosis characterized by hematologic abnormalities, organomegaly, and skeletal involvement. There are three clinical subtypes delineated by the absence or presence and progression of neurologic manifestations. Treatment of type 1 includes enzyme replacement therapy to reverse symptoms. Types 2 and 3 also involve neurologic deterioration and have a poorer prognosis, though enzyme replacement may help with visceral symptoms in type 3.
This document summarizes four lysosomal storage disorders: Niemann-Pick disease, Gaucher's disease, Krabbe's disease, and Farber's disease. Each disease is caused by a defect in an enzyme involved in sphingolipid metabolism, leading to accumulation of specific sphingolipids in tissues. The diseases are characterized by organomegaly, skeletal abnormalities, dermatological issues, neurological impairment, and early mortality.
This document summarizes lipid transport and storage. It discusses the structure of the small intestine and how triglycerides are packed and transported via chylomicrons through the lymphatic system and blood circulation to tissues like liver, muscle and adipose tissue. It also outlines the roles of various apolipoproteins involved in lipid transport, including ApoA, ApoB, ApoC, ApoD and ApoE. Finally, it briefly mentions disorders related to lipid transport and recommended textbooks for further reading on the topic.
Definition:
Many childhood conditions are caused by gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized.
The functional ability of protein, whether it is an enzyme, receptors, transport vehicle, membrane, or structural element, may be relatively or seriously compromised.
These hereditary biochemical disorders are collectively termed as ‘’Inborn errors of metabolism’’
This document defines and classifies different types of lipoproteins. It discusses lipoproteins' roles in transporting lipids like triglycerides and cholesterol through the bloodstream. The main lipoproteins described are chylomicrons, VLDL, IDL, LDL, and HDL. Chylomicrons and VLDL transport lipids from the intestine and liver to tissues. Their triglycerides are broken down by lipoprotein lipase, forming chylomicron/VLDL remnants taken up by the liver. LDL transports cholesterol to tissues, while HDL transports excess cholesterol from tissues back to the liver in reverse transport.
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
This document discusses various disorders of lipid metabolism. It begins by describing Fredrickson's classification of hyperlipidemias. It then discusses specific disorders in more detail, including chylomicron syndrome, familial hypercholesterolemia, familial defective apoB3500, familial combined hyperlipidemia, familial hypertriglyceridemia, type III hyperlipoproteinemia, and polygenic hypercholesterolemia. For each disorder, it provides information on prevalence, genetic factors, clinical presentation, diagnostic criteria, and treatment approaches.
Mucopolysaccharidoses are hereditary lysosomal storage disorders caused by deficiencies in enzymes that break down glycosaminoglycans. This results in glycosaminoglycan accumulation in tissues and organs, leading to symptoms like facial abnormalities, short stature, corneal clouding, developmental delays, bone deformities, organ enlargement, and neurological issues. Diagnosis involves testing urine for glycosaminoglycan levels and measuring enzyme activity levels. Treatment focuses on managing symptoms through supportive care, physical therapy, surgeries, and enzyme replacement therapy or hematopoietic stem cell transplantation to reduce clinical effects.
Gender and Mental Health - Counselling and Family Therapy Applications and In...PsychoTech Services
A proprietary approach developed by bringing together the best of learning theories from Psychology, design principles from the world of visualization, and pedagogical methods from over a decade of training experience, that enables you to: Learn better, faster!
Leveraging Generative AI to Drive Nonprofit InnovationTechSoup
In this webinar, participants learned how to utilize Generative AI to streamline operations and elevate member engagement. Amazon Web Service experts provided a customer specific use cases and dived into low/no-code tools that are quick and easy to deploy through Amazon Web Service (AWS.)
हिंदी वर्णमाला पीपीटी, hindi alphabet PPT presentation, hindi varnamala PPT, Hindi Varnamala pdf, हिंदी स्वर, हिंदी व्यंजन, sikhiye hindi varnmala, dr. mulla adam ali, hindi language and literature, hindi alphabet with drawing, hindi alphabet pdf, hindi varnamala for childrens, hindi language, hindi varnamala practice for kids, https://www.drmullaadamali.com
2. What is Lysosomal Storage Disease? An inherited disease characterized by a defect in the functional expression of any of the lysosomal enzymes. The lysosomal storage diseases are a group of over forty human genetic disorders that result from defects in lysosomal function.
3. What Causes Lyssosomal Storage Disease? All lysosomal storage disorders (LSDs) are a genetic, inherited problem that causes a malfunction of a particular enzyme in the body, so the enzyme cannot properly get rid of cells of waste material. Waste products increase in the lysosomes of cells, which leads to disruption of cell function. However, while all LSDs have a similar cause, there is a big variety of signs and symptoms of the individual diseases. As a group, the LSDs affect almost every part of the body in people of all ages and races .
4. Effects? -Unusual facial features (sometimes with enlarged tongue) -Eyes Appear Cloudy. -Purplish-blue skin rash -Swollen belly or knots from the abdomen (that could indicate enlarged organs or hernias) -Failure to grow/develop properly, skeletal deformities -Muscle weakness or lack of control, decline in motor skills or other development
5. Types Of LSD There are 40 different Lysosomal Storage Disease, Including: Fabry Disease- a mutation in breakdown of lipids, which build up to harmful levels in the eyes, the gene that controls this enzyme causes insufficient kidneys, autonomic nervous system, and cardiovascular system. Gaucher Disease- Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. Hurler Syndrome- An inherited error of metabolism in which there is deficiency of the enzyme alpha L-iduronidase which normally breaks down molecules called mucopolysaccharides. Nieman-Pick B Disease- exhibit normal development for two or more years; this then is followed by a slow loss of speech and other nervous system skills. The disease progresses with symptoms of increased clumsiness and lack of coordination, and eventually seizures, and a gradual failure of physical and mental function. Most children with Type C die between the ages of 5 and 15 years. Pompe Disease- an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. Tay-Sachs Disease- rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy.
6. Sammy’s Story! As a baby, he suffered severe respiratory conditions and painful chronic ear infections. His parents have since learned that these are among the early symptoms of Hunter syndrome. When he was 2, he received his diagnosis. In the years that followed he had his tonsils and adenoids removed, underwent aortic valve replacement, and was frequently hospitalized for other kinds of treatment. From the day Sammy was diagnosed, his parents have been committed to learning, networking with other parents through the National MPS Society, and maintaining the best possible care and quality of life for their son. "Today we have an opportunity to increase public awareness and tell families that there's hope out there,” says Sammy's mom Vangie. “We have to talk about it. Even though Hunter syndrome is a rare disease, if parents know the signs and symptoms and what to look for, they can be more informed and know where to get resources and treatment."