What is AMINOACYLASE I DEFICIENCY (ACY1D)?

very rare autosomal recessive mutation in the ACY1 gene

Gibt es eine deutsche Bezeichnung?

Enzephalopathie mit assoziiertem Aminoacylase 1-Mangel

Disease	AMINOACYLASE I DEFICIENCY (ACY1D)
OMIM	609924 OMIM = Online Mendelian Inheritance of Men
Orphanet	137754
Protein (UniProt)	aminoacylase I
ExPASy	3.5.1.14
Gene locus	3q21.2
ICD	E72.8
Summary	very rare autosomal recessive mutation in the ACY1 gene
Laboratory findings	Aminoacylase I dec (lymphoblasts) N-Acetylalanine inc (urine) N-Acetylasparagine inc (urine) N-Acetylglutamate inc (urine) N-Acetylglutamine inc (urine) N-Acetylglycine inc (urine) N-Acetylisoleucine inc (urine) N-Acetylleucine inc (urine) N-Acetylmethionine inc (urine) N-Acetylserine inc (urine) N-Acetylthreonine inc (urine) N-Acetylvaline inc (urine)
Symptoms	behavior, autism or autistic-like behavior, hyperactive, restless cerebellar atrophy or hypoplasia cortical or cerebral atrophy dystonia encephalopathy feeding difficulties, poor feeding hearing defect, deafness hypotonia motor retardation MRI, brain, abnormalities [-] muscle weakness no clinical symptoms (probably) onset, neonatal seizures