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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 COXPD27
616672
OMIM = Online Medalian Inheritance of Men
477774
14q34
rare
autosomal recessive
mutation in the CARS2 gene
symptoms
abnormal movement
areflexia
blindness, visual loss, visual impairment
cerebral atrophy
chorea or athetosis
dystonia
epilepsy
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
myoclonus
oculogyric crisis
onset, infancy
laboratory finding
Lactic acid increasedserum
MRI, brain, abnormalities -
EEG abnormalities -
Literature
Tran CInborn Errors of Fructose Metabolism. What Can We Learn from Them?Nutrients94E3562017