MIC-Metabolic Information Centre

Disease	2-AMINOADIPIC ACIDURIA
Synonym	AMINOADIPIC ACIDURIA;
OMIM	204750 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	defect in lysine metabolism
Gene locus	unknown
genetests.org	search search on genetest.org by MIM 204750 search search on genetest.org by AMINOADIPIC Testing - View a listing of laboratories that provide clinical testing for this disorder rare autosomal recessive see 2-Ketoadipic acidemia
Clinical symptoms	bleeding tendencies, hemorrhages edema hypotonia macrocephaly (large calvaria, >2 SD for age) mental retardation onset, newborn seizures tachypnea, hyperpnea, dyspnea, respiratory distress
Abnormal Findings in plasma	2-Aminoadipic acid \| Significant : -48.00 µmol/l
Abnormal Findings in urine	2-Aminoadipic acid Normal: 20.00-30.00 µmol/24h \| Significant : -1300.00 mmol/mol creatinine
Treatment
Literature	There are 6 publications available. Click here to open the relevant 2-AMINOADIPIC ACIDURIA publications