Homocarnosinosis (Q40030): Difference between revisions

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+August 2026Timestamp +2026-08-13T00:00:00Z
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+E72.8
@@ Property / Linked ICD 10: E72.8 / rank @@
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Latest revision as of 05:40, 13 August 2026

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 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.

Language	Label	Description	Also known as
default for all languages	5C50.F2
English	Homocarnosinosis	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 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.