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Summary
ASPARAGINE SYNTHETASE DEFICIENCY (ASNSD)
615574
OMIM = Online Medalian Inheritance of Men
391376
7q21.3
very raee
autosomal recessive
mutation in the ASNS gene
symptoms
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
defect of trunk muscle, diaphragm or hiatus hernia
developmental delay
early death
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)
onset, fetus
onset, neonatal
respiratory insufficiency
seizures
laboratory finding
Asparagine +€mol/lplasma
EEG abnormalities -
MRI, brain, abnormalities -
Asparagine +€mol/lcerebrospinal fluid
Literature
Legati A,et al.A novel de novo dominant mutation in ISCU associated with mitochondrial myopathyJ Med Genet5412815-8242017
Rohanizadegan M,Sacharow SDesmosterolosis presenting with multiple congenital anomaliesEur J Med Genet613152-1562018
Hershfield MAdenosine Deaminase DeficiencyGeneReviews-« Internet002017
Mochel F,et al.Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesNeurology744302-3052010
Mochel F,et al.Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesNeurology744302-3052010
Mochel F,Haller RGMyopathy with Deficiency of ISCUGeneReviews-« Internet002016
Turel O,et al.A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutationPediatr Neonatol002017
KAESER H,COTTIER P, ANTENER IGlucoglycinuriaHelv Paediatr Acta. 1961 Dec16:586-608.160586-6081961
Whitmore KV,Gaspar HBAdenosine Deaminase Deficiency - More Than Just an ImmunodeficiencyFront Immunol703142016
Kollberg G,et al.Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathyBrain13282170-21792009
Mueller C,et al.New chemotype of selective and potent inhibitors of human delta 24-dehydrocholesterol reductaseEur J Med Chem1400305-3202017
Mochel F,et al.Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesNeurology744302-3052010