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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 (MC1DN8)
NDUFS3
618230
OMIM = Online Medalian Inheritance of Men
255241
11p11.2
very rare
autosomal recessive
mutation in the NDUFS3 gene
symptoms
dysphagia
dystonia
encephalopathy
hypotonia
lactic acidosis
onset, infancy
onset, neonatal
pancreatitis
respiratory insufficiency
skoliosis, kyphoskoliosis
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lserum
Literature
Lever M,et al.Extreme urinary betaine losses in type 2 diabetes combined with bezafibrate treatment are associated with losses of dimethylglycine and choline but not with increased losses of other osmolytesCardiovasc Drugs Ther285459-4682014
Degirmencioglu H,et al.Citrullinemia with an atypical presentation: persistent hiccups. Case reportArch Argent Pediatr1125e206-2082014