Neurological conditions associated with aminoacylase 1 deficiency

Orpha code: 137754OMIM code: 609924

Definition

An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

Disease data
Classification

Disease

Synonyms
ACY1D
ACY1D
Niedobór amidohydrolazy N-acylo-L-aminokwasów
N-acyl-L-amino acid amidohydrolase deficiency
ORPHA code
137754
OMIM code
609924
ICD10 code
E72.8
ICD11 code
5C50.E1

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl