COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (COXPD43)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (COXPD43)?

Accepted Answer

very rare

autosomal recessive

mutation in the translocase of inner mitochondrial membrane gene TIMM22

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618851

Question 3

Which enzymes are involved?

Accepted Answer

decreased activities of mitochondrial respiratory complexes I, III, and IV

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (COXPD43)
Synonym	TIMM22
OMIM	618851 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	17p13.3
ICD	---
Summary	very rare autosomal recessive mutation in the translocase of inner mitochondrial membrane gene TIMM22
Laboratory findings	L-Lactic acid inc (serum) Creatine kinase inc (serum)
Symptoms	feeding difficulties, poor feeding gastroesophageal reflux hypotonia intrauterine growth retardation lactic acidosis myelination, incomplete, hypomyelination myopathy onset, fetus onset, neonatal