Visit Metagene.de!
Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 COXPD33
617713
OMIM = Online Medalian Inheritance of Men
---
17p13.2
rare
autosomal recessive
mutation in the C1QBP gene
symptoms
bleeding tendencies, hemorrhages
cardiomyopathy
cardiomyopathy, hypertrophic
edema
encephalopathy
exercise intolerance
hearing defect, deafness
hepatomegaly (large liver)
hypothyroidism
intrauterine growth retardation
lactic acidosis
liver involvement or dysfunction
muscle weakness
myopathy
oligohydramnion (maternal)
onset, adulthood
onset, neonatal
ophthalmoplegia
peripheral neuropathy
ptosis (drooping eyelid)
renal failure, acute/chronic
respiratory insufficiency
laboratory finding
Lactic acid3.00 mmol/lplasma
Creatine kinase increasedserum
Transaminases normal-increasedserum
Literature
Akagi M,Inui KFucosidosisRyoikibetsu Shokogun Shirizu330731-7322001