Preferred Label : Combined oxidative phosphorylation deficiency type 5;
ICD-11 definition : Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia,
lactic academia and congenital hyperammonaemia. It has been described in three newborns
born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy
revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed
within the first week of life and the infants died within the first month. The activities
of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the
patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal
protein.;
ICD-11 synonym : COXPD5 - [Combined oxidative phosphorylation deficiency type 5]; Hypotonia with lactic acidaemia and hyperammonaemia;
ICD-11 acronym : COXPD5;
Origin ID : 373222828;
UMLS CUI : C2673642;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia,
lactic academia and congenital hyperammonaemia. It has been described in three newborns
born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy
revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed
within the first week of life and the infants died within the first month. The activities
of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the
patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal
protein.
