Visit Metagene.de!
Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (MC1DN21)
NUBPL
618242
OMIM = Online Medalian Inheritance of Men
2609
14q12
very rare
autosomal recessive
mutation in the NUBPL gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
cognitive impairment
defect of walking, running, rising or climbing
developmental delay
developmental regression
dysarthria
growth retardation, poor growth
hyperreflexia
hypertonia, spasticity
hypotonia
leukodystrophy
leukoencephalopathy
myopathy
nystagmus
onset, childhood
speech development, delayed, abnormal
strabismus
laboratory finding
MRI, brain, abnormalities -
Literature
Alfadhel M,et al.Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humansHum Genet. 2016 Nov135(11):1263-1268.135111263-12682016
Sass JO,et al.Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystoniaMetab Brain Dis313587-5922016
Van Hove J,Coughlin C II, Scharer GGlycine EncephalopathySource GeneReviews-« Internet002013
Kurolap A,Hershkovitz T, Baris HNGLYT1 EncephalopathyGeneReviews-« Internet002017
Kurolap A,et al.Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid GlycineAm J Hum Genet9951172-11802016