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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 COXPD2
CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
610498
OMIM = Online Medalian Inheritance of Men
254920
10q22.2
rare
autosomal recessive
mutation in the MRPS16 gene
symptoms
abnormal movement
brachydactyly
corpus callosum, agenesis/hypoplasia
decreased spontaneous movements
dysmorphism
early death
edema
feeding difficulties, poor feeding
hypotonia
lactic acidosis
liver involvement or dysfunction
low set ears
onset, neonatal
small for gestational age (SGA), intrauterine growth retardation (IUGR)
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid increasedplasma
Literature
Sato Y,et al.Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated With Cardiac and Skeletal Muscle PathologyStem Cells Transl Med6131-392017