COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16?

Accepted Answer

rare
autosomal recessive
mutation in the MRPL44 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 16

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615395

Question 4

Which enzymes are involved?

Accepted Answer

39S ribosomal protein L44, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16
OMIM	615395 OMIM = Online Mendelian Inheritance of Men
Orphanet	352563
Protein (UniProt)	39S ribosomal protein L44, mitochondrial
Gene locus	2q36.1
ICD	I42.2
Summary	rare autosomal recessive mutation in the MRPL44 gene
Laboratory findings	L-Lactic acid inc (plasma) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic lactic acidosis liver involvement or dysfunction onset, childhood onset, infancy