Disorder Of amino acids metabolism
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