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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 MC1DN3
NDUFS7
618224
OMIM = Online Medalian Inheritance of Men
2609
19p13.3
very rare
autosomal recessvie
mutation in the NDUFS7 gene
symptoms
ataxia
dysarthria
dystonia
early death
encephalopathy
extrapyramidal signs
hepatomegaly (large liver)
hyperreflexia
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
onset, infancy
pyramidal signs
respiratory insufficiency
seizures
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/mol Creacerebrospinal fluid
Literature
Graesbeck R,Tanner SM.Juvenile selective vitamin BÔéüÔéé malabsorption: 50 years after its description-10 years of genetic testingPediatr Res703222-2282011
Graesbeck R,Tanner SM.Juvenile selective vitamin BÔéüÔéé malabsorption: 50 years after its description-10 years of genetic testingPediatr Res703222-2282011