COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22?

Accepted Answer

rare
autosomal recessive
mutation in the ATP5A1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 22

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616045

Question 4

Which enzymes are involved?

Accepted Answer

ATP synthase subunit alpha, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22
OMIM	616045 OMIM = Online Mendelian Inheritance of Men
Orphanet	254913
Protein (UniProt)	ATP synthase subunit alpha, mitochondrial
Gene locus	18q21.1
ICD	E88.8
Summary	rare autosomal recessive mutation in the ATP5A1 gene
Laboratory findings	Alanine inc (serum)
Symptoms	early death encephalopathy failure to thrive heart failure, cardiac failure hypotonia intrauterine growth retardation microcephaly (<2 SD for age) onset, neonatal pulmonary hypertension