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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 COXPD9
614582
OMIM = Online Medalian Inheritance of Men
319509
3q22.1
rare
autosomal recessive
mutation in the MRPL3 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
developmental delay
dyspnea
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hepatomegaly (large liver)
lactic acidosis
liver involvement or dysfunction
metabolic acidosis
nephritis
onset, infancy
psychomotor retardation
laboratory finding
Alanine increasedserum
L-Lactic acid increasedserum
Transaminases increasedserum
MRI, brain, abnormalities -
Literature
Hedberg-Oldfors C,et al.Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literatureJ Inherit Metab Dis401139-1492017
Moslemi AR,et al.Glycogenin-1 deficiency and inactivated priming of glycogen synthesisN Engl J Med362131203-12102010