COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34?

Accepted Answer

very rare

autosomal recessive

mutation in the MRPS7 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617872

Question 3

Which enzymes are involved?

Accepted Answer

28S ribosomal protein S7, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34
OMIM	617872 OMIM = Online Mendelian Inheritance of Men
Orphanet	457223
Protein (UniProt)	28S ribosomal protein S7, mitochondrial
Gene locus	17q25.1
ICD	G31.8
Summary	very rare autosomal recessive mutation in the MRPS7 gene
Laboratory findings	D-Glucose dec (serum) L-Lactic acid inc (blood)
Symptoms	adrenal insufficiency failure to thrive hearing defect, deafness hepatomegaly (large liver) hypoglycemia hypogonadism lactic acidosis learning disability liver failure onset, infancy renal dysfunction, renal defects vomiting