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Hypotonia with lactic acidemia and hyperammonemia
This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.
ORPHA:137908Classification level: Disorder
- Combined oxidative phosphorylation defect type 5
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Antenatal, Neonatal
- ICD-10: E88.8
- OMIM: 611719
- UMLS: C2673642
- MeSH: -
- GARD: -
- MedDRA: -
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.