COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29?

Accepted Answer

rare
autosmal recessive
mutation in the TXN2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 29

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616811

Question 4

Which enzymes are involved?

Accepted Answer

Thioredoxin, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29
Synonym	MITOCHONDRIAL THIOREDOXIN 2 DEFICIENCY
OMIM	616811 OMIM = Online Mendelian Inheritance of Men
Orphanet	478029
Protein (UniProt)	Thioredoxin, mitochondrial
Gene locus	22q12.3
ICD
Summary	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