COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21?

Accepted Answer

rare
autosomal recessive
mutation in the TARS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 21

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615918

Question 4

Which enzymes are involved?

Accepted Answer

Threonine--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21
OMIM	615918 OMIM = Online Mendelian Inheritance of Men
Orphanet	420733
Protein (UniProt)	Threonine--tRNA ligase, mitochondrial
Gene locus	1q21.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the TARS2 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	developmental delay early death hypotonia lactic acidosis liver involvement or dysfunction MRI, brain, abnormalities [-] onset, neonatal