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Homocarnosinosis

MONDO:0009351

Homocarnosinosis is a metabolic defect characterized 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.

Also known as: Homocarnosinase deficiency, homocarnosinosis

24 clinical trials for this condition and its sub-types.

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Sub-types

Carnosinemia (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)

Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5

Homocarnosinosis

Sub-types

Broader categories

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