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Homocarnosinosis

Orpha number ORPHA2168
Synonym(s) Homocarnosinase deficiency
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • E72.8
OMIM
UMLS
  • C0268632
MeSH
  • C535328
MedDRA -
SNOMED CT
  • 274616003
  • 61764000

Summary

Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.

Expert reviewer(s)

  • Pr Jaak JAEKEN
Last update: July 2006

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