Homocarnosinosis (Q40030): Difference between revisions
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A homocarnosinose é um defeito metabólico caracterizado por diplegia espástica progressiva, deficiência intelectual e retinite pigmentosa. Este distúrbio extremamente raro foi relatado em apenas uma família, ou seja, uma mulher e três de seus filhos. Os filhos tiveram manifestações, mas sua mãe não tinha sintomas. Portanto, é incerto se existe uma relação entre o defeito bioquímico e os sintomas clínicos. A herança na família relatada parece ser autossômica dominante. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
