MIC-Metabolic Information Centre

Disease	2-KETOADIPIC ACIDEMIA
Synonym	KETOADIPICACIDURIA;
OMIM	245130 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Enzyme	2-ketoadipic dehydrogenase, E1 or E2 component
Gene locus	unknown
genetests.org	search search on genetest.org by MIM 245130
Summary	rare autosomal recessive see Alpha-aminoadipic aciduria several affected individuals have been described with no clinical symptoms
Clinical symptoms	Amino acids, plasma Amino acids, urine ataxia hypotonia mental retardation metabolic acidosis no clinical signs or symptoms Organic acids, urine seizures skin defects
Abnormal Findings in plasma	2-Aminoadipic acid \| Significant : 30.00-80.00 µmol/l
Abnormal Findings in urine	2-Aminoadipic acid Normal: 20.00-30.00 µmol/24h \| Significant : 150.00-1500.00 µmol/24h 2-Hydroxyadipic acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 50.00-220.00 mmol/mol creatinine 2-Hydroxyglutaric acid (L) Normal: 20.00-46.00 mmol/mol creatinine \| Significant : - increased 2-Ketoadipic acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 20.00-220.00 mmol/mol creatinine N-Acetyl-2-aminoadipic acid \| Significant : - increased
Treatment
Literature	There are 6 publications available. Click here to open the relevant 2-KETOADIPIC ACIDEMIA publications