Variants
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2-aminoadipic 2-oxoadipic aciduria

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Description

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.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

84

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Genes

External Links

  • OMIM

    204750

  • Orphanet

    79154

  • HPO
  • Medgen

    C1859817

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