COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25?

Accepted Answer

rare
autosomal recessive
mutation in the MARS2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 25

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616430

Question 4

Which enzymes are involved?

Accepted Answer

Methionine--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25
OMIM	616430 OMIM = Online Mendelian Inheritance of Men
Orphanet	447954
Protein (UniProt)	Methionine--tRNA ligase, mitochondrial
Gene locus	2q33.1
ICD	E88.8
Summary	rare autosomal recessive mutation in the MARS2 gene
Laboratory findings	L-Lactic acid normal/inc (serum) 3-Methylglutaconic acid inc (urine) Human growth hormone (hGH) dec (serum)
Symptoms	hearing defect, deafness short stature cerebellar atrophy or hypoplasia cerebral atrophy developmental delay dysmorphism feeding difficulties, poor feeding growth retardation, poor growth hypotonia MRI, brain, abnormalities [-] onset, neonatal