2-Aminoadipic-2-oxoadipic aciduria

2-Aminoadipic-2-oxoadipic aciduria (AMOXAD) is a rare, autosomal recessive metabolic disorder caused by defects in the degradation of the amino acids lysine and tryptophan. It is classified as an organic aciduria and results from mutations in the DHTKD1 gene, which encodes a mitochondrial enzyme essential for the breakdown of 2-aminoadipate and 2-oxoadipate. The condition leads to the accumulation of these metabolites in blood and urine.

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