COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29 | |
MITOCHONDRIAL THIOREDOXIN 2 DEFICIENCY | |
616811
OMIM = Online Mendelian Inheritance of Men | |
478029 | |
Thioredoxin, mitochondrial | |
22q12.3 |
|
rare autosmal recessive mutation in the TXN2 gene | |
Laboratory findings | L-Lactic acid inc (plasma) L-Lactic acid inc (cerebrospinal fluid) |
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, infancy onset, neonatal optic atrophy peripheral neuropathy retinopathy seizures |