COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17?

Accepted Answer

rare
autosomal recessive
mutation in the ELAC2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 17

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615440

Question 4

Which enzymes are involved?

Accepted Answer

Zinc phosphodiesterase ELAC protein 2

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17
OMIM	615440 OMIM = Online Mendelian Inheritance of Men
Orphanet	369913
Protein (UniProt)	Zinc phosphodiesterase ELAC protein 2
Gene locus	17p12
ICD	E88.8
Summary	rare autosomal recessive mutation in the ELAC2 gene
Laboratory findings	L-Lactic acid inc (plasma) Orotic acid normal/inc (urine)
Symptoms	cardiomyopathy lactic acidosis cardiomyopathy, hypertrophic congenital heart defect developmental delay dysmorphism early death failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness heart failure, cardiac failure hypotonia intrauterine growth retardation microcephaly (<2 SD for age) onset, infancy psychomotor retardation seizures