Version: 8.0.0
Date: Tue Jan 28 2025
2-aminoadipic 2-oxoadipic aciduria
DOID:0111453
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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 the DHTKD1 gene on chromosome 10p14.
Synonyms
  • alpha-aminoadipic aciduria
  • AMOXAD
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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