" /> Aminoacylase 1 deficiency - CISMeF





Preferred Label : Aminoacylase 1 deficiency;

Symbol : ACY1D;

CISMeF acronym : ACY1D;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aminoacylase-1 gene (ACY1, 104620.0001).;

Laboratory abnormalities : Decreased aminoacylase-1 activity; Increased urinary N-acetylated amino acids;

Prefixed ID : #609924;

Details


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02/05/2025


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