COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28?

Accepted Answer

rare
autosomal recessive
mutation in the SLC25A26 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 28

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616794

Question 4

Which enzymes are involved?

Accepted Answer

S-adenosylmethionine mitochondrial carrier protein

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28
OMIM	616794 OMIM = Online Mendelian Inheritance of Men
Orphanet	466784
Protein (UniProt)	S-adenosylmethionine mitochondrial carrier protein
Gene locus	3p14.1
ICD
Summary	rare autosomal recessive mutation in the SLC25A26 gene
Laboratory findings	Glycine normal/inc (plasma) L-Lactic acid inc (plasma) Pyruvic acid normal/inc (serum)
Symptoms	developmental delay heart failure, cardiac failure hypotonia lactic acidosis muscle weakness onset, infancy pulmonary hypertension respiratory insufficiency