COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (COXPD42)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (COXPD42)?

Accepted Answer

very rare

autosomal recessive

mutation in the GATC gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618839

Question 3

Which enzymes are involved?

Accepted Answer

decreased activities of complexes I, III, and IV

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 (COXPD42)
Synonym	GATC
OMIM	618839 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	12q24.31
ICD	---
Summary	very rare autosomal recessive mutation in the GATC gene
Laboratory findings	L-Lactic acid inc (urine) Alanine inc (plasma) Creatine kinase inc (serum) D-Glucose n/d (blood) Ketone bodies (urine) inc (urine) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	anemia cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic early death failure to thrive heart failure, cardiac failure hydrops fetalis hypoglycemia lactic acidosis liver involvement or dysfunction onset, infancy pericardial effusion respiratory insufficiency