Visit Metagene.de!
Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (MC1DN4)
NDUFV1
618225
OMIM = Online Medalian Inheritance of Men
2609
11q13.2
very rare
autosomal recessvie
mutation in the NDUFV1 gene
symptoms
apnea
ataxia
cerebral atrophy
developmental delay
early death
hypertonia, spasticity
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
onset, childhood
onset, infancy
ophthalmoplegia
ptosis (drooping eyelid)
seizures
vomiting
laboratory finding
L-Lactic acid mmol/lcerebrospinal fluid
L-Lactic acid mmol/lserum
Literature
Mayr SJ,et al.A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturationJ Inherit Metab Dis412187-1962018