COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (COXPD20)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (COXPD20)?

Accepted Answer

very rare (5 patients)
autosomal recessive
mutation in the VARS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 20

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615917

Question 4

Which enzymes are involved?

Accepted Answer

Valine--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (COXPD20)
Synonym	VARS2
OMIM	615917 OMIM = Online Mendelian Inheritance of Men
Orphanet	420728
Protein (UniProt)	Valine--tRNA ligase, mitochondrial
Gene locus	6p21.33
ICD	G31.88
Summary	very rare (5 patients) autosomal recessive mutation in the VARS2 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	abnormal movement ataxia cardiomyopathy developmental delay dysmorphism encephalopathy epilepsy failure to thrive hypogonadism hypotonia lactic acidosis mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] nystagmus onset, infancy ophthalmoplegia seizures short stature speech development, delayed, abnormal