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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 COXPD29
616811
OMIM = Online Medalian Inheritance of Men
478029
22q12.3
rare
autosmal recessive
mutation in the TXN2 gene
symptoms
abnormal movement
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
dystonia
feeding difficulties, poor feeding
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
onset, neonatal
optic atrophy
peripheral neuropathy
retinopathy
seizures
laboratory finding
Lactic acid3.00 mmol/lplasma
Lactic acid mmol/lcerebrospinal fluid
Literature
Jiang M,et al.Brain abnormalities in fucosidosis: transplantation or supportive therapy?Metab Brain Dis322317-3202017