Hurler Syndrome
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Hurler Syndrome is a rare genetic disorder caused by the absence of an enzyme that breaks down complex sugars, causing them to build up in the lysosome and produce severe symptoms. Sidney Van Hook, a three-year-old with Hurler Syndrome, received a bone marrow transplant which was successful but she still has some symptoms. New medications like Aldurazyme can replace the missing enzyme to stop sugar buildup and bone marrow transplants or gene therapy may help treat the disease.
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This document discusses several genetic disorders and diseases:
1. It lists 13 genetic diseases including Gaucher Disease, Huntington's Disease, Hemophilia, Parkinson's Disease, and Cystic Fibrosis.
2. It categorizes genetic disorders into four types - single gene disorders, multifactorial disorders caused by multiple genes and environment, chromosomal abnormalities, and mitochondrial disorders.
3. It provides brief descriptions of some specific genetic disorders like Gaucher Disease caused by enzyme deficiency, Huntington's Disease causing uncontrolled movements, and Hemophilia being a bleeding disorder linked to the X chromosome.
Glycogen storage disorders pathology
Glycogen storage disease is caused by deficiencies in enzymes involved in glycogen metabolism. There are several types classified based on the enzyme deficiency and clinical manifestations. Type 1 is von Gierke disease where deficiency of glucose-6-phosphatase causes hypoglycemia and liver abnormalities. Type 2 is Pompe disease caused by acid alpha-glucosidase deficiency leading to glycogen accumulation in muscles. Treatments depend on the type but may include dietary modifications, enzyme replacement therapy, or gene therapy.
Single Gene Disorder/ Mendalian Disorder - Shumaila Riaz
“Single gene disorder is defined as diseases that occur due to the mutations in the single gene that ultimately form non-functional gene”.
Basics of Mucopolysaccharidosis (MPS)
This document provides an overview of Mucopolysaccharidosis (MPS). MPS are hereditary progressive diseases caused by mutations in genes coding for lysosomal enzymes needed to break down glycosaminoglycans. Failure to break down GAGs leads to their accumulation in lysosomes, interfering with tissue function. There are several types of MPS classified by the specific enzyme deficiency and GAG accumulation. Features include organomegaly, skeletal abnormalities, joint stiffness, cardiac issues, and neurological involvement depending on the type. Diagnosis involves urine GAG analysis, enzyme testing, and genetic testing. Management options include hematopoietic stem cell transplantation, enzyme replacement therapy, and symptomatic care.
Genetic
This document discusses human genetics and genetic disorders. It begins by noting statistics on genetic abnormalities in newborns and diseases with a genetic component. It then defines genetics, genomics, proteomics, and single nucleotide polymorphisms. The rest of the document discusses molecular bases of human disease including functional and positional cloning. It classifies human diseases and discusses mutations, Mendelian disorders, X-linked disorders, and autosomal dominant and recessive patterns of inheritance. Key points covered include definitions of genetic terms, Mendel's laws of inheritance, mechanisms of various disorders, and inheritance patterns.
Genetics
This document discusses genetics and human diseases. It begins with an introduction to genetics, noting that humans have around 30,000 genes. It then describes different types of human diseases, including those determined genetically, environmentally, or with contributions from both. The document discusses different types of genetic mutations and how they can cause inherited diseases or cancers. It also outlines different patterns of Mendelian inheritance including autosomal dominant, autosomal recessive, and sex-linked traits. Specific genetic disorders are provided as examples, such as Marfan syndrome and familial hypercholesterolemia.
Genetics for undergraduates
This document discusses genetics and human diseases caused by genetic mutations. It begins with an introduction to genetics, noting that humans have around 30,000 genes. It then discusses different types of genetic mutations including point mutations, frameshift mutations, and trinucleotide repeat mutations. The document outlines different patterns of genetic inheritance including autosomal dominant, autosomal recessive, and sex-linked inheritance. It provides examples of diseases that follow each pattern of inheritance. The document concludes by discussing specific genetic diseases in more depth, including phenylketonuria (PKU), galactosemia, and how mutations in enzymes, receptors, and structural proteins can cause disease.
Tay Sach's Disease, Gaucher Disease & Krabb Disease
Tay Sach's disease, Gaucher's disease, and Krabbe disease are three rare genetic disorders that are caused by mutations preventing the breakdown of fatty substances in the body. Tay Sach's disease destroys neurons in the brain and spinal cord due to a buildup of GM2 ganglioside. Gaucher's disease results in enlarged organs and bones from accumulated glucocerebroside. Krabbe disease damages myelin and nerves from excess galactolipids. While treatments can manage symptoms, there are currently no cures for these inherited disorders.
Progeria
The clinical presentation of the 23-year-old male patient, Ammar, is consistent with progeria syndrome as he has exhibited signs of premature aging such as growth retardation, skin changes, hair loss, and joint stiffness since childhood. Genetic testing confirmed a mutation in the LMNA gene associated with Hutchinson-Gilford progeria syndrome. While the average life expectancy is 13 years for individuals with this rare genetic condition, the patient remains alive at 23 years of age.
Genetic Diseases
The document discusses several genetic diseases including Achondroplasia, Autism, Cri du chat syndrome, Cystic fibrosis, Down syndrome, Duane syndrome, Duchenne muscular dystrophy, Factor V Leiden thrombophilia, Familial hypercholesterolemia, Fragile X syndrome, Gaucher disease, Hemophilia, Holoprosencephaly, Klinefelter syndrome, Myotonic dystrophy, Neurofibromatosis, Noonan syndrome, Osteogenesis imperfecta, Parkinson's disease, Phenylketonuria, Retinitis pigmentosa, Sickle cell disease, and Tay-Sachs disease. For each disease, the document provides a brief description of
HGPS(Progeria disease)
Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is an extremely rare genetic disorder causing rapid aging in children. It is caused by a mutation in the LMNA gene producing abnormal lamin A protein called progerin. Children with Progeria appear normal at birth but show signs of aging including hair loss, stiff joints, and cardiovascular problems. They typically die of heart attacks or strokes in their early teens. In 2012, the first drug treatment using farnesyltransferase inhibitors was discovered, showing promise in reducing progerin and improving flexibility of blood vessels and other symptoms for children in clinical trials.
Mucopolysaccharidosis
Mucopolysaccharidosis is a group of lysosomal storage diseases caused by mutations that prevent the breakdown of glycosaminoglycans. There are several types of mucopolysaccharidosis, including MPS I (Hurler syndrome) and MPS II (Hunter syndrome). These disorders are typically treated through hematopoietic stem cell transplantation or enzyme replacement therapy to manage symptoms and increase lifespan.
Fabry disease.pptx
Fabry disease is a rare genetic disorder caused by deficient activity of the enzyme alpha-galactosidase A. This results in accumulation of globotriaosylceramide and related molecules in the body's cells. It is an X-linked recessive condition affecting males more severely than females. Symptoms involve the skin, eyes, kidneys, heart, and nervous system. Diagnosis is confirmed through enzyme testing or genetic analysis. Treatment includes enzyme replacement therapy with agalsidase beta, agalsidase alfa, or pegunigalsidase alfa. Migalastat is a pharmacological chaperone drug that can also be used. Management of organ-specific complications is also important.
group 1 presentation.pptx
The chapter discusses two neurodegenerative diseases: Alzheimer's disease and Huntington's disease. Alzheimer's disease typically presents with early problems in memory and visuospatial abilities and accounts for about 65% of dementia cases in the United States. The majority of Alzheimer's disease cases are late onset and usually develop after age 65. Huntington's disease is an autosomal dominant disorder characterized by involuntary movements and deterioration of cognitive function. There is no cure for either disease.
Genetic presentation
The document provides information on several genetic disorders including colon cancer, hypothyroidism, Turner syndrome, Down syndrome, pachyonychia congenita, Smith-Magenis syndrome, sickle cell disease, severe combined immunodeficiency, phenylketonuria, neurofibromatosis type 1, maple syrup urine disease, Huntington's disease, adenosine deaminase deficiency, alpha-1 antitrypsin deficiency, Williams syndrome, albinism, cystic fibrosis, Tay-Sachs disease, and Kartagener syndrome. For each disorder, it summarizes the definition, symptoms, causes or genetic changes, inheritance pattern if applicable, prevalence, diagnosis, and available treatments.
Genetic Disorders
Mutations can be inherited from parents or acquired during one's lifetime. Hereditary mutations exist in reproductive cells and can be passed down generations. While cells have mechanisms to repair mutations, these mechanisms can fail over time, allowing mistakes to accumulate. Down syndrome is caused by an extra copy of chromosome 21, leading to physical and mental retardation symptoms. Klinefelter syndrome results from an extra X chromosome in males, causing breast growth and infertility. Turner syndrome occurs in females missing a single X chromosome. Sickle cell anemia is an inherited blood disorder most common in people of African descent. Genetic testing can detect mutations that cause diseases and determine cancer risk or carrier status for inherited conditions.
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
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Treatment Options
Endocrine Therapy
Endocrine therapy is the cornerstone of treatment for HR+ breast cancer in postmenopausal women. The primary goal is to reduce the levels of estrogen or block its effects on cancer cells. Commonly used agents include:
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Aromatase Inhibitors (AIs): These drugs, including anastrozole, letrozole, and exemestane, lower estrogen levels by inhibiting the aromatase enzyme, which converts androgens to estrogen in peripheral tissues. AIs are generally preferred in postmenopausal women due to their efficacy and safety profile compared to tamoxifen.
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Chemotherapy
Chemotherapy is generally reserved for patients with high-risk features, such as large tumor size, high-grade histology, or extensive lymph node involvement. Regimens often include anthracyclines and taxanes.
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