Visit Metagene.de!
Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 COXPD1
HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
609060
OMIM = Online Medalian Inheritance of Men
137681
3q25.32
rare
autosomal recessive
symptoms
abnormal movement
ataxia
cholestasis
decreased spontaneous movements
early death
encephalopathy
feeding difficulties, poor feeding
hepatomegaly (large liver)
hyperreflexia
intrauterine growth retardation
lactic acidosis
liver failure
metabolic acidosis
microcephaly (<2 SD for age)
nystagmus
onset, fetus
onset, infancy
onset, neonatal
ophthalmoparesis
psychomotor retardation
seizures
laboratory finding
L-Lactic acid increasedplasma
L-Lactic acid increasedcerebrospinal fluid
Literature
Lai CJ,et al.Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement TherapyJ Child Neurol3141617-16212016