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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 (MC1DN32)
NDUFB8
618252
OMIM = Online Medalian Inheritance of Men
70474
10q24.31
very rare
autosomal recessive
mutation in the NDUFB8 gene
symptoms
cardiac involvement, cardiac defects
developmental delay
early death
failure to thrive
hypotonia
lactic acidosis
metabolic acidosis
onset, infancy
respiratory insufficiency
seizures
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lserum
MRI, brain, abnormalities -
Literature
Bruun TUJ,et al.Treatment outcome of creatine transporter deficiency: international retrospective cohort studyMetab Brain Dis002018