What is ASPARAGINE SYNTHETASE DEFICIENCY (ASNSD)?

very raee autosomal recessive mutation in the ASNS gene

Which enzymes are involved?

Asparagine synthetase [glutamine-hydrolyzing]

Disease	ASPARAGINE SYNTHETASE DEFICIENCY (ASNSD)
OMIM	615574 OMIM = Online Mendelian Inheritance of Men
Orphanet	391376
Protein (UniProt)	Asparagine synthetase [glutamine-hydrolyzing]
ExPASy	6.3.5.4
Gene locus	7q21.3
ICD	E72.8
Summary	very raee autosomal recessive mutation in the ASNS gene
Laboratory findings	Asparagine normal/dec (plasma) Asparagine dec (cerebrospinal fluid)
Symptoms	blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy defect of trunk muscle, diaphragm or hiatus hernia developmental delay early death EEG abnormalities [-] encephalopathy epilepsy failure to thrive feeding difficulties, poor feeding hair, abnormal (thin, brittle, fine) hyperekplexia hyperreflexia hypertonia, spasticity hypotonia intracerebral, cortical or paraventricular cysts intrauterine growth retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, fetus onset, neonatal respiratory insufficiency seizures