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Summary
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (MC5DN3)
614053
OMIM = Online Medalian Inheritance of Men
254913
20q13.32
very rare
autosomal recessive
mutation in the ATP5E gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
lactic acidosis
mental retardation
onset, neonatal
peripheral neuropathy
laboratory finding
L-Lactic acid mmol/lserum
3-Methylglutaconic acid mmol/mol Creaurine
Literature
Quinonez SC,Thoene JGDihydrolipoamide Dehydrogenase DeficiencyGeneReviews-« Internet002014