wt, 187 gms,normal for age - unispital-basel.ch
TRANSCRIPT
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