COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3?

Accepted Answer

rare
autosomal recessive
mutation in the TSFM gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 3

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610505

Question 4

Which enzymes are involved?

Accepted Answer

Elongation factor Ts, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3
Synonym	ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS
OMIM	610505 OMIM = Online Mendelian Inheritance of Men
Orphanet	168566
Protein (UniProt)	Elongation factor Ts, mitochondrial
Gene locus	12q14.1
ICD	E88.8
Summary	rare autosomal recessive mutation in the TSFM gene
Laboratory findings	Ammonia inc (blood) Creatine kinase inc (serum) L-Lactic acid inc (plasma)
Symptoms	ataxia blindness, visual loss, visual impairment cardiomyopathy cardiomyopathy, dilated cognitive impairment developmental delay dystonia early death encephalopathy fetal akinesia/hypokinesia sequence hyperammonemia hypotonia lactic acidosis MRI, brain, abnormalities [-] muscle weakness onset, neonatal optic atrophy optic neuropathy respiratory insufficiency rhabdomyolysis seizures tremor or twitching