COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (COXPD46)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (COXPD46)?

Accepted Answer

very rare

autosomal recessive

mutation in the MRPS23 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618952

Question 3

Which enzymes are involved?

Accepted Answer

combined mitochondrial respiratory oxidative phosphorylation deficiency

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (COXPD46)
Synonym	MRPS23
OMIM	618952 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	17q22
ICD	---
Summary	very rare autosomal recessive mutation in the MRPS23 gene
Laboratory findings
Symptoms	liver involvement or dysfunction onset, childhood