Wt, 187 gms,normal for age

CK7

Skeletal muscle

Rahman, J Inh Metab Dis 2013;36:659

Our patient found to have primary mutation in MTCYB, cyt b SNP’s in DGUOK, MPV17, DNA pol Gamma Complex 3 composed of 11 subunits, 10 encoded by nDNA, 1 by mtDNA (MTCYB, cyt b) Mutations in nDNA result in severe phenotype with encephalopathy and liver failure Mutations in cyt b result mainly in exercise intolerance +/- lactic acidosis Rare reports of MTCYB mutations with early polyvisceral failure (homoplasmy) (Fragaki, mitochodrion 2009)

Our patient

Fellman and Kotarsky, Sem in Fetal and Neonatal Medicine, 2011

Hazard et al Ped Dev Path 2013

Autosomal recessive Tissues with respiratory chain deficiency have reduced mtDNA content, but residual mtDNA has no mutations Major cause of neonatal hepatopathy

2 months

7 months

Hazard et al Ped Dev Path 2013