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Metadata
ID DOID:0111453
Name 2-aminoadipic 2-oxoadipic aciduria
Definition An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14.
https://www.ncbi.nlm.nih.gov/pubmed/23141293
Xrefs

OMIM:204750

ORDO:79154

Synonyms

alpha-aminoadipic aciduria [EXACT]

AMOXAD [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

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