COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12?

Accepted Answer

rare
autosomal recessive
mutation in the EARS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 12

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614924

Question 4

Which enzymes are involved?

Accepted Answer

Probable glutamate--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
OMIM	614924 OMIM = Online Mendelian Inheritance of Men
Orphanet	314051
Protein (UniProt)	Probable glutamate--tRNA ligase, mitochondrial
Gene locus	16p12.2
ICD
Summary	rare autosomal recessive mutation in the EARS2 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	blindness, visual loss, visual impairment cardiac involvement, cardiac defects cholestasis cleft palate developmental delay dystonia failure to thrive hepatomegaly (large liver) hypotonia lactic acidosis leukoencephalopathy MRI, brain, abnormalities [-] onset, infancy onset, neonatal ophthalmoplegia paraparesis/paraplegia paresis psychomotor retardation ptosis (drooping eyelid) seizures