COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24?

Accepted Answer

rare
autosomal recessive
mutation in the NARS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 24

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616239

Question 4

Which enzymes are involved?

Accepted Answer

Probable asparagine--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24
OMIM	616239 OMIM = Online Mendelian Inheritance of Men
Orphanet	444458
Protein (UniProt)	Probable asparagine--tRNA ligase, mitochondrial
Gene locus	11q14.1
ICD	G71.3
Summary	rare autosomal recessive mutation in the NARS2 gene
Laboratory findings	Creatine kinase inc (serum) L-Lactic acid inc (plasma)
Symptoms	cerebral atrophy dysarthria feeding difficulties, poor feeding hypotonia intellectual disability/intellectual developmental disorder lactic acidosis microcephaly (<2 SD for age) muscle atrophy muscle weakness myopathy nystagmus onset, infancy optic atrophy ptosis (drooping eyelid) renal dysfunction, renal defects seizures status epilepticus tubulopathy