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Hypotonia with lactic acidemia and hyperammonemia

Disease definition

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

ORPHA:137908

Classification level: Disorder
  • Synonym(s):
    • COXPD5
    • Combined oxidative phosphorylation defect type 5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: E88.8
  • ICD-11: 5C53.23
  • OMIM: 611719
  • UMLS: C2673642
  • MeSH: C567126
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in three newborns born to consanguineous parents.

Clinical description

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.

Etiology

Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein.

- Last update: April 2008

  A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.