COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27?

Accepted Answer

rare
autosomal recessive
mutation in the CARS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 27

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616672

Question 4

Which enzymes are involved?

Accepted Answer

Probable cysteine--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27
OMIM	616672 OMIM = Online Mendelian Inheritance of Men
Orphanet	477774
Protein (UniProt)	Probable cysteine--tRNA ligase, mitochondrial
Gene locus	14q34
ICD
Summary	rare autosomal recessive mutation in the CARS2 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	abnormal movement areflexia blindness, visual loss, visual impairment cerebral atrophy chorea or athetosis dystonia EEG abnormalities [-] epilepsy failure to thrive feeding difficulties, poor feeding hearing defect, deafness hypotonia lactic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myoclonus oculogyric crisis onset, infancy seizures status epilepticus