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Disorder Of amino acids metabolism

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  A group of disorders related to amino acids are known as inborn errors of metabolism or aminoacidopathies. These are genetic conditions where the body is unable to properly process certain amino acids. Here are brief descriptions of a few amino acid disorders: 1. Phenylketonuria (PKU):    - Affected Amino Acid: Phenylalanine    - Enzyme Deficiency: Phenylalanine hydroxylase    - Consequence: Accumulation of phenylalanine, leading to intellectual disabilities if not treated early. 2. Maple Syrup Urine Disease (MSUD):    - Affected Amino Acids: Leucine, Isoleucine, Valine    - Enzyme Deficiency:Branched-chain alpha-ketoacid dehydrogenase    - Consequence: Buildup of branched-chain amino acids, causing neurological damage. 3. Homocystinuria:    - Affected Amino Acid: Methionine    - Enzyme Deficiency:Various, including cystathionine beta-synthase    - Consequence: Elevated levels of homocysteine, leading to eye, skeletal, and cardiovascular problems. 4. Alkaptonuria:    - Affected Amino

NExt pathology: Glycogen storage disease NEET MDS 2024

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Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Glycogen is a complex sugar that serves as a storage form of glucose in the body. When there's a deficiency in one of the enzymes responsible for glycogen synthesis or breakdown, it leads to abnormal accumulation or breakdown of glycogen in tissues. Here are a few key types of GSDs, each associated with a specific enzyme deficiency: 1. GSD Type I (von Gierke disease): Caused by a deficiency of glucose-6-phosphatase, which is essential for releasing glucose from glycogen. This results in the accumulation of glycogen in the liver and kidneys, leading to an enlarged liver (hepatomegaly), hypoglycemia, and growth retardation. 2. GSD Type II (Pompe disease): Caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in various tissues, particularly muscles. This can result in muscle