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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (MC1DN17)
NDUFAF6
618239
OMIM = Online Medalian Inheritance of Men
255241
8q22.1
very rare
autosomal recessive
mutation in the NDUFAF6 gene
symptoms
ataxia
developmental delay
dysarthria
dystonia
gait disturbance
hypotonia
lactic acidosis
muscle atrophy
onset, childhood
onset, infancy
scoliosis
seizures
white matter changes, abnormalities
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid mmol/lserum
Literature
Dias RP,et al.Os odontoideum in wolcott-rallison syndrome: a case series of 4 patientsOrphanet J Rare Dis110142016
Price KE,et al.Effects of valproic acid on organic acid metabolism in children: a metabolic profiling studyClin Pharmacol Ther896867-8742011
Luis PB,et al.Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patientsJ Inherit Metab Dis353443-4492012
Maekawa M,et al.Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplificationHum Genet88134-381991
Gupta E,Kunjal R, Cury JDSevere Hyponatremia Due to Valproic Acid ToxicityJ Clin Med Res79717-7192015
Luis PB,et al.Valproic acid utilizes the isoleucine breakdown pathway for its complete +¦-oxidationBiochem Pharmacol82111740-17462011