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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 COXPD23
616198
OMIM = Online Medalian Inheritance of Men
444013
19p13.11
rare
autosomal recessive
mutation in the GTPBP3 gene
symptoms
blindness, visual loss, visual impairment
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
developmental delay
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
heart failure, cardiac failure
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
intrauterine growth retardation
lactic acidosis
onset, neonatal
respiratory insufficiency
seizures
laboratory finding
Lactic acid3.00 mmol/lplasma
Lactic acid mmol/lcerebrospinal fluid
Alanine normal-increasedplasma
Literature
Buerk KFriedreich Ataxia: current status and future prospectsCerebellum Ataxias4042017
Tran CInborn Errors of Fructose Metabolism. What Can We Learn from Them?Nutrients94E3562017
Kearney M,et al.Pharmacological treatments for Friedreich ataxiaCochrane Database Syst Rev802016