COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8?

Accepted Answer

rare
autosomal recessive
mutation in the AARS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 8

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614096

Question 4

Which enzymes are involved?

Accepted Answer

Alanine--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
OMIM	614096 OMIM = Online Mendelian Inheritance of Men
Orphanet	319504
Protein (UniProt)	Alanine--tRNA ligase, mitochondrial
Gene locus	6p21.1
ICD	I42.2
Summary	rare autosomal recessive mutation in the AARS2 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic early death EEG abnormalities [-] failure to thrive lactic acidosis muscle weakness onset, infancy