| 204750 | ||||||||||||
| AMINOADIPIC ACIDURIA | ||||||||||||
| Clinical Synopsis | ||||||||||||
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| In the course of routine screening, Fischer et al. (1974) observed alpha-aminoadipic aciduria in 2 brothers, aged 9 and 10 years. They attributed it to a defect in lysine metabolism. One had slight mental retardation (IQ 86), but the authors doubted a relation to the metabolic variant. Alpha-aminoadipicacid is COOH-CH(NH2)3-COOH. See ketoadipic aciduria (245130). Lormans and Lowenthal (1974) described the same condition in a 6-year-old mentally retarded boy. Alpha-aminoadipic acid is an intermediate in the breakdown of lysine. It is metabolized to alpha-ketoadipic acid and ultimately to acetoacetyl CoA via glutaryl CoA. Fischer and Brown (1980) studied tryptophan and lysine metabolism. Barshop et al. (2000) reported a patient who presented with 2-oxoadipic aciduria and 2-aminoadipic aciduria at 2 years of age with manifestations typical of organic acidemia, episodes of ketosis and acidosis, progressive to coma. This resolved and the key metabolites disappeared from the urine and blood. At 9 years of age, she developed typical Kearns-Sayre syndrome (530000) with complete heart block, retinopathy, and ophthalmoplegia. Southern blot revealed a deletion in the mitochondrial genome. | ||||||||||||
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