Iminoglycinuria ? A ?harmless? inborn error of metabolism?
| Autor: | L. I. Woolf, V. M. Patton, A. I. Friedmann, D. N. Wade, G. R. Fraser |
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| Rok vydání: | 1968 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Proline genetic structures Offspring Glycine Deafness Biology Blindness Retina Consanguinity Genetics medicine Humans Amino Acids Iminoglycinuria Amino Acid Metabolism Inborn Errors Genetics (clinical) Perceptive deafness medicine.disease Amino acid screening Hydroxyproline Inborn error of metabolism |
| Zdroj: | Human Genetics. 6 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00286806 |
| Popis: | A boy with iminoglycinuria was discovered during routine urinary amino acid screening of a series of children with severe visual handicap. In addition to iminoglycinuria and blindness due to Leber's tapeto-retinal degeneration, this boy has profound perceptive deafness dating from infancy. It is concluded, on the basis of a study of previous cases reported, that the iminoglycinuria is not causally related to his blindness and deafness and may represent an essentially harmless inborn error of metabolism. The view that he suffers from three distinct autosomal recessive conditions receives some support from the fact that he may be the offspring of a mating between full sibs. |
| Databáze: | OpenAIRE |
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