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Aminoacylase 1 deficiency

rare

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

Identifiers
MONDO:0012368 OMIM:609924Orphanet:137754
Causal genes
ACY1
Part of
Inborn aminoacylase deficiencyInborn disorder of amino acid metabolism
Also known as
ACY1 deficiency · ACY1D · deficiency of the aminoacylase-1 enzyme · N-acyl-L-amino acid amidohydrolase deficiency · neurological conditions associated with aminoacylase 1 deficiency

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