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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 COXPD7
613559
OMIM = Online Medalian Inheritance of Men
254930
12q24.31
rare
autosomal recessive
mutation in the C12ORF65 gene
symptoms
ataxia
blindness, visual loss, visual impairment
dysarthria
failure to thrive
ileus
lactic acidosis
nystagmus
onset, childhood
onset, infancy
ophthalmoplegia
optic atrophy
psychomotor retardation
ptosis (drooping eyelid)
swallowing difficulties
laboratory finding
L-Lactic acid increasedserum
Literature
Yi H,et al.Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IVMol Genet Metab Rep9031-332016
Said SM,et al.A novel GBE1 gene variant in a child with glycogen storage disease type IVHum Pathol540152-1562016