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References OMIM Gene GeneReviews HGMD HGNC
last update : 8/09/2007
Symbol ACY1D
Location 3p21
Name aminoacylase 1 deficiency
Corresponding gene ACY1
Main clinical features
  • increased urinary secretion of several N-acetylated amino acids, with nonspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia . high amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function