Amino Acid Metabolism, Inborn Errors
| Definition: |
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. |
| Notes: |
coord IM with specific amino acid /metab (IM); DF: AA METAB INBORN ERR |
| Also Called: |
Amino Acid Metabolism, Inherited Disorders |
Amino Acid Metabolism, Inborn Errors Categories.
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Alkaptonuria - An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase and causing an accumulation of homogentisic acid in the urine. The condition is characterized by ochronosis in various tissues and arthritis. |
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Hyperhomocysteinemia - An inborn error of methionone metabolism which produces an excess of homocysteine in the blood. It is often caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and is a risk factor for coronary vascular disease. |
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Multiple Carboxylase Deficiency - A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. |
Amino Acid Metabolism, Inborn Errors Definitions and Terms
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