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.
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0017686
inborn aminoacylase deficiency
is_a
ACY1 deficiency
related
ACY1D
exact
N-acyl-L-amino acid amidohydrolase deficiency
exact
aminoacylase 1 deficiency
exact
deficiency of the aminoacylase-1 enzyme
related
neurological conditions associated with aminoacylase 1 deficiency
exact