Spherophakia associated with molybdenum cofactor deficiency
| Autor: | Angelo Selicorni, Claude Dorche, Renato Fortuna, Elisabetta Vismara, Grazia M.S. Mancini, V. Briscioli, G. Minniti, Rossella Parini, Ubaldo Caruso |
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| Rok vydání: | 1998 |
| Předmět: |
Male
medicine.medical_specialty Purine-Pyrimidine Metabolism Inborn Errors Coenzymes Genes Recessive Biology Neonatal age chemistry.chemical_compound Fatal Outcome Internal medicine Sulfite oxidase Lens Crystalline Metalloproteins medicine Humans Xanthine oxidase Child Molybdenum cofactor deficiency Sulfite oxidase deficiency Aldehyde oxidase Genetics (clinical) Oxidase test Pteridines Lens Subluxation medicine.disease Endocrinology chemistry Xanthine dehydrogenase Molybdenum Cofactors |
| Zdroj: | American journal of medical genetics. 73(3) |
| ISSN: | 0148-7299 |
| Popis: | Molybdenum cofactor deficiency is an autosomal recessive disorder characterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifestations are indistinguishable from those of isolated sulfite oxidase deficiency: craniofacial alterations, intractable neonatal convulsions, very severe mental retardation, lens dislocation, and death in the first decade of life. Lens dislocation is found in nearly all patients after neonatal age. In the present case it developed late (at the age of 8 years) and was preceded by bilateral spherophakia. We hypothesize that an abnormal relaxation of the zonular fibers is the cause of spherophakia in this disease; this causes lens dislocation eventually, after days, months, or years. |
| Databáze: | OpenAIRE |
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