homocarnosinosis
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.
MONDO:0000698
gamma-amino butyric acid metabolism disorder
is_a
MONDO:0019232
inborn disorder of peptide metabolism
is_a
Homocarnosinase deficiency
exact
homocarnosinosis
exact