(Q28208917)

English

Aminoacylase 1 deficiency

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

  • ACY1D
  • AMINOACYLASE 1 DEFICIENCY
  • Deficiency of the aminoacylase-1 enzyme
  • ACY1 deficiency
  • N-acyl-L-amino acid amidohydrolase deficiency
  • AMINOACYLASE 1 DEFICIENCY; ACY1D

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