COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5?

Accepted Answer

rare
autosomal recessive
mutation in the MRPS22 gene
hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22 [Kilic M et al. 2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 5

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611719

Question 4

Which enzymes are involved?

Accepted Answer

28S ribosomal protein S22, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
Synonym	MRPS22
OMIM	611719 OMIM = Online Mendelian Inheritance of Men
Orphanet	137908
Protein (UniProt)	28S ribosomal protein S22, mitochondrial
Gene locus	3q23
ICD	E88.8
Summary	rare autosomal recessive mutation in the MRPS22 gene hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22 [Kilic M et al. 2017]
Laboratory findings	Ammonia inc (blood) L-Lactic acid (plasma)
Symptoms	ascites cardiomyopathy cardiomyopathy, hypertrophic developmental delay dysmorphism early death growth retardation, poor growth hyperammonemia hypotonia lactic acidosis leukoencephalopathy low set ears metabolic acidosis microcephaly (<2 SD for age) myopathy onset, neonatal seizures skin rash, eczematous or seborrhoic spastic diplegia/quadriplegia/tetraplegia tubulopathy