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GTR Home > Conditions/Phenotypes > 2-aminoadipic 2-oxoadipic aciduria

2-aminoadipic 2-oxoadipic aciduria

Synonyms
ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA; Amino Adipic Aciduria; Aminoadipic aciduria

Summary

Alpha-aminoadipic and alpha ketoadipic aciduria (AAKAD) is an inborn error of lysine, tryptophan, and hydroxylysine metabolism, which is manifested by the accumulation and excretion of 2-aminoadipic, 2-ketoadipic, and 2-hydroxyadipic acids. [from OMIM]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1, DHTKD1
    Summary: dehydrogenase E1 and transketolase domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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