Hereditary fructose intolerance
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Hereditary fructose intolerance slides fructose is not digested properly. Fructose intolerance slides in English by dr Shah Noor. Fructose metabolism is impaired. fructose 1 phosphate is accumulated.Fructose intolerance can be treated with decrease fructose intake.
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Hereditary fructose intolerance (hfi)
Hereditary Fructose Intolerance (HFI) is a condition where the body has difficulty metabolizing fructose due to a deficiency of the enzyme fructose-1-phosphate aldolase. This causes fructose-1-phosphate to accumulate and inhibit glycogen and glucose production, potentially leading to hypoglycemia, liver failure, and death if not treated. The only treatment is a lifelong strict fructose and sucrose-free diet to avoid all sources of fructose.
Fructose intolerance and Clinical diagnosis
Fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. Fructose is a fruit sugar that naturally occurs in the body. Man-made fructose is used as a sweetener in many foods, including baby food and drinks.
PHOSPHOROUS METABOLISM
Phosphorus metabolism is important for many bodily functions. The document discusses:
1) Phosphorus is widely distributed in the body, with about 80% found in bones and teeth and 15% in soft tissues. It is essential for energy storage, structural components, and pH regulation.
2) Dietary sources include milk, beans, eggs, and meat. The recommended daily intake is 800mg, or 1200mg for pregnant/lactating women.
3) Phosphorus is mostly absorbed in the small intestine and regulated by parathyroid hormone and calcitriol to maintain balance with calcium levels. About 500mg is excreted daily through urine.
Fetal Alcohol Syndrome
Fetal Alcohol Syndrome (FAS) is caused when a mother drinks alcohol during pregnancy. It can cause growth, mental, and physical problems in babies. FAS is the leading preventable cause of birth defects in the US, with 1 in 750 infants born with FAS each year. FAS can cause facial abnormalities, learning disabilities, and behavioral issues that persist throughout life. There is no cure for FAS, but early intervention and support services can help individuals cope with the effects. Teachers of students with FAS must recognize signs of overwhelm and provide extra one-on-one support, patience, and rewards for positive behavior.
Refsum disease
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CALCIUM METABOLISM
This document summarizes mineral metabolism, focusing on calcium. It describes calcium as the most abundant mineral, mainly stored in bones. It discusses calcium absorption in the small intestine and regulation of blood calcium levels by the bones, kidneys, intestine, parathyroid hormone, calcitriol, and calcitonin working together. Hypercalcemia occurs when blood calcium levels exceed 11 mg/dL and can be caused by hyperparathyroidism.
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The document discusses expanded newborn screening using tandem mass spectrometry (MS/MS). It notes that MS/MS allows for simultaneous analysis and detection of many metabolic disorders from a single blood sample. The document outlines the methodology of MS/MS screening including compound analysis of amino acids and acylcarnitines. It is stated that newborn screening aims to screen approximately 60,000 newborns annually in Kuwait to identify disorders, prevent death or disability, and includes screening for 22 disorders currently. The key components of an effective newborn screening program are also summarized.
Fructose metabolism
This document discusses fructose metabolism in the liver and extrahepatic tissues. It notes that fructose is metabolized to fructose-1-phosphate in the liver by fructokinase and can then enter pathways like glycolysis, glycogen synthesis, or lipogenesis. In extrahepatic tissues, fructose is first phosphorylated to fructose-6-phosphate by hexokinase and can then be converted to glucose-6-phosphate and enter glycolysis. Excessive fructose consumption can lead to hypoglycemia, hyperuricemia, and increased fatty acid and cholesterol levels due to increased flux through these metabolic pathways. Rare genetic defects like hereditary fructose int
Recommended
Hereditary fructose intolerance (hfi)
Hereditary Fructose Intolerance (HFI) is a condition where the body has difficulty metabolizing fructose due to a deficiency of the enzyme fructose-1-phosphate aldolase. This causes fructose-1-phosphate to accumulate and inhibit glycogen and glucose production, potentially leading to hypoglycemia, liver failure, and death if not treated. The only treatment is a lifelong strict fructose and sucrose-free diet to avoid all sources of fructose.
Fructose intolerance and Clinical diagnosis
Fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. Fructose is a fruit sugar that naturally occurs in the body. Man-made fructose is used as a sweetener in many foods, including baby food and drinks.
PHOSPHOROUS METABOLISM
Phosphorus metabolism is important for many bodily functions. The document discusses:
1) Phosphorus is widely distributed in the body, with about 80% found in bones and teeth and 15% in soft tissues. It is essential for energy storage, structural components, and pH regulation.
2) Dietary sources include milk, beans, eggs, and meat. The recommended daily intake is 800mg, or 1200mg for pregnant/lactating women.
3) Phosphorus is mostly absorbed in the small intestine and regulated by parathyroid hormone and calcitriol to maintain balance with calcium levels. About 500mg is excreted daily through urine.
Fetal Alcohol Syndrome
Fetal Alcohol Syndrome (FAS) is caused when a mother drinks alcohol during pregnancy. It can cause growth, mental, and physical problems in babies. FAS is the leading preventable cause of birth defects in the US, with 1 in 750 infants born with FAS each year. FAS can cause facial abnormalities, learning disabilities, and behavioral issues that persist throughout life. There is no cure for FAS, but early intervention and support services can help individuals cope with the effects. Teachers of students with FAS must recognize signs of overwhelm and provide extra one-on-one support, patience, and rewards for positive behavior.
Refsum disease
refsum disease its a genetical disorder which is autosomal recessive phytanoyl-CoA-hydroxylase is the enzyme location of this enzyme is chromosome 10p13
CALCIUM METABOLISM
This document summarizes mineral metabolism, focusing on calcium. It describes calcium as the most abundant mineral, mainly stored in bones. It discusses calcium absorption in the small intestine and regulation of blood calcium levels by the bones, kidneys, intestine, parathyroid hormone, calcitriol, and calcitonin working together. Hypercalcemia occurs when blood calcium levels exceed 11 mg/dL and can be caused by hyperparathyroidism.
Newbornscreening kuwait
The document discusses expanded newborn screening using tandem mass spectrometry (MS/MS). It notes that MS/MS allows for simultaneous analysis and detection of many metabolic disorders from a single blood sample. The document outlines the methodology of MS/MS screening including compound analysis of amino acids and acylcarnitines. It is stated that newborn screening aims to screen approximately 60,000 newborns annually in Kuwait to identify disorders, prevent death or disability, and includes screening for 22 disorders currently. The key components of an effective newborn screening program are also summarized.
Fructose metabolism
This document discusses fructose metabolism in the liver and extrahepatic tissues. It notes that fructose is metabolized to fructose-1-phosphate in the liver by fructokinase and can then enter pathways like glycolysis, glycogen synthesis, or lipogenesis. In extrahepatic tissues, fructose is first phosphorylated to fructose-6-phosphate by hexokinase and can then be converted to glucose-6-phosphate and enter glycolysis. Excessive fructose consumption can lead to hypoglycemia, hyperuricemia, and increased fatty acid and cholesterol levels due to increased flux through these metabolic pathways. Rare genetic defects like hereditary fructose int
Fanconi anemia, syndrome
This document discusses Fanconi syndrome and Fanconi anemia. Fanconi syndrome is a generalized proximal tubular defect in the kidneys causing defects in renal tubular reabsorption. It can be hereditary or acquired. Fanconi anemia is a rare inherited bone marrow failure syndrome associated with physical abnormalities and cancer predisposition. It is caused by mutations in genes involved in DNA repair. Supportive care includes transfusions and hematopoietic stem cell transplantation represents the only cure for hematological complications.
Galactosemia
Galactosemia is a genetic disorder caused by a deficiency of enzymes involved in galactose metabolism, leading to an accumulation of galactose and its metabolites in the body. There are three main types caused by deficiencies in galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK), or galactose-4-epimerase (GALE). Symptoms include jaundice, poor feeding, vomiting, and long term issues such as speech delays, intellectual disability, and ovarian dysfunction. Treatment requires strict lifelong avoidance of galactose in the diet through exclusion of milk and milk products, along with calcium and soy or hydrolyzed protein formula supplementation.
Gaucher disease
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.
Lastose and fructose intolerance
intolerance,food stuffs containing lactose and fructose and their types,deficiencies,symptoms,diagnosis,treatment
phenylketonuria
PKU is an autosomal recessive genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is necessary to break down the amino acid phenylalanine. Without it, phenylalanine builds up to toxic levels in the blood and brain, which can lead to intellectual disabilities if left untreated. PKU is typically detected via newborn screening and treated through a lifelong low-phenylalanine diet. Some cases may also be managed through medication. Strict dietary control is necessary before and during pregnancy for women with PKU to prevent complications in their babies.
FETAL ALCOHOL SYNDROME(FAS)
Fetal alcohol spectrum disorders (FASD) are caused by prenatal alcohol exposure and range from mild effects to the most severe, fetal alcohol syndrome (FAS). FAS is characterized by facial abnormalities, growth problems, and central nervous system issues. A study in Croatia found a prevalence of FAS of 16.9 per 1,000 children and a combined FASD prevalence of 66.7 per 1,000 children examined, indicating FASDs are a serious public health problem. The only way to prevent FASDs is to avoid any alcohol during pregnancy. Treatment requires lifelong medical and therapeutic care to address symptoms.
G6PD Deficiency
G6PD deficiency is an X-linked genetic condition characterized by low levels of the enzyme glucose-6-phosphate dehydrogenase, which helps maintain red blood cell health. People with G6PD deficiency are prone to hemolytic anemia during times of oxidative stress, such as certain infections, foods like fava beans, drugs, and chemicals. The condition is most common in people from the Mediterranean and Africa and provides some protection against malaria.
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This document provides an overview of glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses that G6PD deficiency is an inherited disorder caused by a genetic defect in the red blood cell enzyme G6PD. This leads to haemolytic anemia when exposed to oxidative agents. The document outlines the history, epidemiology, risk factors, pathophysiology, signs and symptoms, diagnosis, treatment and management of G6PD deficiency. It concludes that identification and discontinuation of precipitating agents is key in management, and prevention methods can avoid negative impacts on quality of life.
Von Gierke's Disease
This document discusses glycogen storage disorders (GSD), specifically GSD type 1a (von Gierke's disease). It begins with an overview and lists the different types of GSD. It then provides more details on the background, causes, signs and symptoms, diagnosis, and treatment of GSD type 1a. GSD type 1a is caused by a deficiency of the glucose-6-phosphatase enzyme and results in glycogen accumulation in the liver and kidneys. Patients experience hypoglycemia, lactic acidosis, ketosis, and hyperlipidemia. Diagnosis involves blood and urine tests and liver biopsy to check enzyme levels. Treatment focuses on dietary management to avoid low blood glucose.
Calcium metabolism
This document provides an overview of calcium metabolism. It discusses the regulatory mechanisms that control calcium levels in the blood and bones. The key hormones involved - parathyroid hormone (PTH), calcitonin, and vitamin D - and how they work to increase or decrease blood calcium levels by affecting absorption in the gut and resorption/deposition in bones. It also covers calcium storage in bones, excretion by the kidneys, interactions with other minerals, and disorders that can arise from issues with calcium regulation.
Mineral metabolism
The document discusses mineral metabolism, with a focus on calcium and phosphorus. It covers the following key points:
- Calcium and phosphorus are important minerals that make up bones and teeth and are involved in many vital functions.
- Their metabolism involves absorption in the small intestine, regulation by calcitriol, parathyroid hormone, and calcitonin, and excretion primarily through feces and urine.
- Disorders of calcium and phosphorus metabolism can result from deficiencies or excesses and cause issues like hypocalcemia, hypercalcemia, rickets, and osteoporosis. Maintaining proper levels of these minerals is important for overall health.
IRON METABOLISM
- Iron is an essential trace element that is present in many proteins and enzymes in the body. It is required to transport oxygen via hemoglobin and is involved in many redox reactions in the body.
- Iron is absorbed in the small intestine and transported through the blood bound to transferrin. It is stored in the liver, spleen and bone marrow bound to ferritin.
- Disorders of iron metabolism include iron deficiency anemia due to low intake or absorption of iron and iron overload disorders like hemochromatosis where iron accumulates in tissues and can damage organs like the liver, pancreas and heart.
Aminoaciduria and organic aciduria in neurology
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Lactose Intolerance
Lactose intolerance is the inability or insufficient ability to digest lactose, a sugar found in milk and milk products. Lactose intolerance is caused by a deficiency of the enzyme lactase, which is produced by the cells lining the small intestine. Lactase breaks down lactose into two simpler forms of sugar called glucose and galactose, which are then absorbed into the bloodstream.
Not all people with lactase deficiency have digestive symptoms, but those who do may have lactose intolerance. Most people with lactose intolerance can tolerate some amount of lactose in their diet.
People sometimes confuse lactose intolerance with cow milk allergy. Milk allergy is a reaction by the body's immune system to one or more milk proteins and can be life threatening when just a small amount of milk or milk product is consumed. Milk allergy most commonly appears in the first year of life, while lactose intolerance occurs more often in adulthood.
National Institute of Diabetes and Digestive and Kidney Diseases:
Galactosemia
Galactosemia is caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is an inborn error of metabolism. This causes galactose-1-phosphate to accumulate in the liver, inhibiting other enzymes and causing hypoglycemia. Clinical features include liver enlargement, jaundice, cataracts, mental retardation, and accumulation of galactose in the urine. Treatment involves removing lactose from the diet to prevent symptoms; special diets may be stopped after 4 years when another enzyme becomes active.
IODINE METABOLISM
The document summarizes iodine metabolism. It states that iodine is primarily stored in the thyroid gland where it is used to synthesize the thyroid hormones triiodothyronine and tetraiodothyronine. Dietary sources of iodine include seafood, eggs, dairy, and iodized salt. A deficiency of iodine can lead to goiter or cretinism in children, while excess iodine or goitrogenic substances can also interfere with thyroid hormone production.
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Phosphate homeostasis & its related disorders
This document discusses phosphate homeostasis and related disorders. It covers the functions, regulation, and normal ranges of phosphate in the body. Phosphate is essential for many processes like bone mineralization and energy metabolism. The kidneys play a major role in regulating phosphate levels through reabsorption and excretion. Parathyroid hormone (PTH) and vitamin D help regulate phosphate absorption in the intestines and its levels in blood and bones. Abnormalities can cause either high or low phosphate levels. Causes and effects of hyperphosphatemia and hypophosphatemia are explained.
OSMF
This document provides an overview of oral submucous fibrosis (OSF). It defines OSF as a condition affecting the oral cavity and sometimes pharynx that involves inflammatory and fibroelastic changes to the lamina propria. Chewing areca nut (betel nut) is identified as the main risk factor. The document discusses the epidemiology, etiology, pathogenesis, clinical features, precancerous nature, investigations and management of OSF. It is most common in South Asia and has increased prevalence due to the rise in chewing gutka and pan masala containing areca nut and tobacco.
Sucrose as arch criminal of dental caries and dietary studies
Sucrose is regarded as a major cause of dental caries. It is fermented by bacteria in dental plaque, lowering the pH and promoting an environment for acid-producing bacteria. Sucrose also aids in the production of extracellular polysaccharides that allow plaque to stick to teeth in larger quantities. Interventional studies like the Vipeholm study showed that dental caries increased with greater sugar consumption, especially between meals. Substituting xylitol for sucrose resulted in lower caries rates and fewer cariogenic bacteria in the Turku sugar study. Strictly limiting sugars through dietary intervention can reduce dental caries to minimal levels.
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Fanconi anemia, syndrome
This document discusses Fanconi syndrome and Fanconi anemia. Fanconi syndrome is a generalized proximal tubular defect in the kidneys causing defects in renal tubular reabsorption. It can be hereditary or acquired. Fanconi anemia is a rare inherited bone marrow failure syndrome associated with physical abnormalities and cancer predisposition. It is caused by mutations in genes involved in DNA repair. Supportive care includes transfusions and hematopoietic stem cell transplantation represents the only cure for hematological complications.
Galactosemia
Galactosemia is a genetic disorder caused by a deficiency of enzymes involved in galactose metabolism, leading to an accumulation of galactose and its metabolites in the body. There are three main types caused by deficiencies in galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK), or galactose-4-epimerase (GALE). Symptoms include jaundice, poor feeding, vomiting, and long term issues such as speech delays, intellectual disability, and ovarian dysfunction. Treatment requires strict lifelong avoidance of galactose in the diet through exclusion of milk and milk products, along with calcium and soy or hydrolyzed protein formula supplementation.
Gaucher disease
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.
Lastose and fructose intolerance
intolerance,food stuffs containing lactose and fructose and their types,deficiencies,symptoms,diagnosis,treatment
phenylketonuria
PKU is an autosomal recessive genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is necessary to break down the amino acid phenylalanine. Without it, phenylalanine builds up to toxic levels in the blood and brain, which can lead to intellectual disabilities if left untreated. PKU is typically detected via newborn screening and treated through a lifelong low-phenylalanine diet. Some cases may also be managed through medication. Strict dietary control is necessary before and during pregnancy for women with PKU to prevent complications in their babies.
FETAL ALCOHOL SYNDROME(FAS)
Fetal alcohol spectrum disorders (FASD) are caused by prenatal alcohol exposure and range from mild effects to the most severe, fetal alcohol syndrome (FAS). FAS is characterized by facial abnormalities, growth problems, and central nervous system issues. A study in Croatia found a prevalence of FAS of 16.9 per 1,000 children and a combined FASD prevalence of 66.7 per 1,000 children examined, indicating FASDs are a serious public health problem. The only way to prevent FASDs is to avoid any alcohol during pregnancy. Treatment requires lifelong medical and therapeutic care to address symptoms.
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G6PD deficiency is an X-linked genetic condition characterized by low levels of the enzyme glucose-6-phosphate dehydrogenase, which helps maintain red blood cell health. People with G6PD deficiency are prone to hemolytic anemia during times of oxidative stress, such as certain infections, foods like fava beans, drugs, and chemicals. The condition is most common in people from the Mediterranean and Africa and provides some protection against malaria.
Iron absorption
This document discusses iron absorption and iron deficiency anemia. It states that iron absorption primarily occurs in the duodenum and jejunum, and is regulated by both dietary intake and iron stores. Iron deficiency is the most common cause of anemia worldwide, especially impacting women and children. The key signs of iron deficiency anemia are a decreased hemoglobin level and red blood cell size.
glucose-6-phosphatedehydrogenasedeficiency2-190629154837.pptx
This document provides an overview of glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses that G6PD deficiency is an inherited disorder caused by a genetic defect in the red blood cell enzyme G6PD. This leads to haemolytic anemia when exposed to oxidative agents. The document outlines the history, epidemiology, risk factors, pathophysiology, signs and symptoms, diagnosis, treatment and management of G6PD deficiency. It concludes that identification and discontinuation of precipitating agents is key in management, and prevention methods can avoid negative impacts on quality of life.
Von Gierke's Disease
This document discusses glycogen storage disorders (GSD), specifically GSD type 1a (von Gierke's disease). It begins with an overview and lists the different types of GSD. It then provides more details on the background, causes, signs and symptoms, diagnosis, and treatment of GSD type 1a. GSD type 1a is caused by a deficiency of the glucose-6-phosphatase enzyme and results in glycogen accumulation in the liver and kidneys. Patients experience hypoglycemia, lactic acidosis, ketosis, and hyperlipidemia. Diagnosis involves blood and urine tests and liver biopsy to check enzyme levels. Treatment focuses on dietary management to avoid low blood glucose.
Calcium metabolism
This document provides an overview of calcium metabolism. It discusses the regulatory mechanisms that control calcium levels in the blood and bones. The key hormones involved - parathyroid hormone (PTH), calcitonin, and vitamin D - and how they work to increase or decrease blood calcium levels by affecting absorption in the gut and resorption/deposition in bones. It also covers calcium storage in bones, excretion by the kidneys, interactions with other minerals, and disorders that can arise from issues with calcium regulation.
Mineral metabolism
The document discusses mineral metabolism, with a focus on calcium and phosphorus. It covers the following key points:
- Calcium and phosphorus are important minerals that make up bones and teeth and are involved in many vital functions.
- Their metabolism involves absorption in the small intestine, regulation by calcitriol, parathyroid hormone, and calcitonin, and excretion primarily through feces and urine.
- Disorders of calcium and phosphorus metabolism can result from deficiencies or excesses and cause issues like hypocalcemia, hypercalcemia, rickets, and osteoporosis. Maintaining proper levels of these minerals is important for overall health.
IRON METABOLISM
- Iron is an essential trace element that is present in many proteins and enzymes in the body. It is required to transport oxygen via hemoglobin and is involved in many redox reactions in the body.
- Iron is absorbed in the small intestine and transported through the blood bound to transferrin. It is stored in the liver, spleen and bone marrow bound to ferritin.
- Disorders of iron metabolism include iron deficiency anemia due to low intake or absorption of iron and iron overload disorders like hemochromatosis where iron accumulates in tissues and can damage organs like the liver, pancreas and heart.
Aminoaciduria and organic aciduria in neurology
aminoaciduria and organic aciduria are considered as important disorder in the group of inborn error of metabolism.
Lactose Intolerance
Lactose intolerance is the inability or insufficient ability to digest lactose, a sugar found in milk and milk products. Lactose intolerance is caused by a deficiency of the enzyme lactase, which is produced by the cells lining the small intestine. Lactase breaks down lactose into two simpler forms of sugar called glucose and galactose, which are then absorbed into the bloodstream.
Not all people with lactase deficiency have digestive symptoms, but those who do may have lactose intolerance. Most people with lactose intolerance can tolerate some amount of lactose in their diet.
People sometimes confuse lactose intolerance with cow milk allergy. Milk allergy is a reaction by the body's immune system to one or more milk proteins and can be life threatening when just a small amount of milk or milk product is consumed. Milk allergy most commonly appears in the first year of life, while lactose intolerance occurs more often in adulthood.
National Institute of Diabetes and Digestive and Kidney Diseases:
Galactosemia
Galactosemia is caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is an inborn error of metabolism. This causes galactose-1-phosphate to accumulate in the liver, inhibiting other enzymes and causing hypoglycemia. Clinical features include liver enlargement, jaundice, cataracts, mental retardation, and accumulation of galactose in the urine. Treatment involves removing lactose from the diet to prevent symptoms; special diets may be stopped after 4 years when another enzyme becomes active.
IODINE METABOLISM
The document summarizes iodine metabolism. It states that iodine is primarily stored in the thyroid gland where it is used to synthesize the thyroid hormones triiodothyronine and tetraiodothyronine. Dietary sources of iodine include seafood, eggs, dairy, and iodized salt. A deficiency of iodine can lead to goiter or cretinism in children, while excess iodine or goitrogenic substances can also interfere with thyroid hormone production.
Phosphorus metabolism
harrison based notes
washington manual
hypophosphatemia
tumor calcinosis
tumour induced osteomalacia
hyperphosphatemia
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hypophospahtemic rickets
Fanconi anemia
Fanconi anemia is a rare genetic disorder that causes bone marrow failure and an increased risk of cancer. It results from mutations in any one of at least 15 genes responsible for DNA repair. Patients typically experience progressive pancytopenia and physical abnormalities. The disease is diagnosed through tests that examine chromosomal breakage in response to DNA crosslinking agents. Treatment involves blood transfusions, antibiotics, bone marrow transplant, and managing symptoms.
Phosphate homeostasis & its related disorders
This document discusses phosphate homeostasis and related disorders. It covers the functions, regulation, and normal ranges of phosphate in the body. Phosphate is essential for many processes like bone mineralization and energy metabolism. The kidneys play a major role in regulating phosphate levels through reabsorption and excretion. Parathyroid hormone (PTH) and vitamin D help regulate phosphate absorption in the intestines and its levels in blood and bones. Abnormalities can cause either high or low phosphate levels. Causes and effects of hyperphosphatemia and hypophosphatemia are explained.
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- 1. Shah Noor Roll# 404
- 3. SOURCES OF FRUCTOSE • SUCROSE (CANE SUGAR) • FRUITS • HONEY • CORN SYRUP
- 4. SITES OF METABOLISM OF FRUCTOSE • LIVER • INTESTINE • KIDNEYS
- 5. FRUCTOSE FRUCTOKINASE FRUCTOSE 1 PHOSPHATE DIHYDROXY ACETONE PHOSPHATE (DAP) ALDOLASE B
- 6. FRUCTOSE 1 PHOSPHATE ALLOSTERICALLY INHIBITS LIVER PHOPHORYLASE AND BLOCKS GLUCOGENOLYSIS IT LEADS TO HYPOGLYCEMIA
- 7. CLINICAL FEATURES • SEVERE HYPOGLYCEMIA • VOMITINGS • LOSS OF APETITE • JAUNDICE • HEPATIC FAILURE
- 8. DIAGNOSIS FRUCTOSE EXCRETED IN URINE
- 9. TREATMENT RESTRICTION OF DIETARY FRUCTOSE
- 10. CBL • Candice S. is an 18-year-old girl who presented to her physician for a precollege physical examination. While taking her medical history, the doctor learned that she carefully avoided eating all fruits and any foods that contained table sugar. She related that from a very early age, she had learned that these foods caused severe weakness and symptoms suggestive of low blood sugar such as tremulousness and sweating. Her medical history also indicated that her mother had told her that once she started drinking and eating more than breast milk, she became an irritable baby who often cried incessantly, especially after meals, and vomited frequently. At these times, Candice’s abdomen had become distended, and she became drowsy and apathetic. Her mother had intuitively eliminated certain foods from Candice’s diet, after which the severity and frequency of these symptoms diminished
- 11. QUESTIONS 1. WHAT IS THE LIKELY DIAGNOSIS? 2. NAME THE ENZYME WHICH IS LIKELY TO BE DEFICIENT IN THIS PATIENT? 3. BIOCHEMICAL BASIS OF HYPOGLYCEMIA IN THIS PATIENT? 4. TREATMENT?