Visit Metagene.de!
Summary
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (MC5DN4)
615228
OMIM = Online Medalian Inheritance of Men
254913
18q21.1
very rare
autosomal recessive
mutation in the ATP5A1 gene
symptoms
apnea
early death
encephalopathy
high pitched cry
irritability
nystagmus
onset, neonatal
seizures
laboratory finding
MRI, brain, abnormalities -
no specific laboratory findings (P, S, U ,CSF)
Literature
Puisac B,et al.Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New PatientsInt J Mol Sci1942018