" /> Neurological conditions associated with aminoacylase 1 deficiency - CISMeF





Preferred Label : Neurological conditions associated with aminoacylase 1 deficiency;

ICD-11 definition : Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and variable neurologic symptoms. (delayed psychomotor development or seizures).;

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

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29/07/2025


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