2-aminoadipic 2-oxoadipic aciduria
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Sign InDescription
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.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
84