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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 (MC1DN6)
NDUFS2
618228
OMIM = Online Medalian Inheritance of Men
70474
1q23.3
very rare
autosomal recessive
mutation in the NDUFS2 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral atrophy
developmental regression
early death
failure to thrive
hyperreflexia
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
onset, infancy
optic atrophy
pyramidal signs
respiratory insufficiency
laboratory finding
L-Lactic acid mmol/lcerebrospinal fluid
L-Lactic acid mmol/lserum
Literature
Chen M,et al.Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature reviewMedicine (Baltimore)9643e82842017