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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (MC1DN10)
NDUFAF2
618233
OMIM = Online Medalian Inheritance of Men
2609
5q12.1
very rare
autosomal recessive
mutation in the NDUFAF2 gene
symptoms
apnea
ataxia
developmental delay
dysphagia
early death
encephalopathy
feeding difficulties, poor feeding
hypotonia
leukoencephalopathy
nystagmus
onset, childhood
onset, infancy
optic atrophy
respiratory insufficiency
seizures
white matter changes, abnormalities
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid mmol/lcerebrospinal fluid
L-Lactic acid mmol/lserum
Literature
Mercimek-Mahmutoglu S,et al.Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometryMol Genet Metab964273-2752009