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Occurrences of methylmalonic aciduria and Hartnup disorder in the same family |
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| Authors: | V. E. Shih J. T. Coulombe S. K. Wadman M. Duran J. J. J. Waelkens |
| Affiliation: | Neurology and Children's Service, Massachusetts General Hospital, Boston, MA;State Laboratory Institute, Jamaica Plain, MA U.S.A.;University Children's Hospital "Het Wilhelmina Kinderziekenhuis", Utrecht;Catharina Ziekenhuis, Department of Pediatrics, Eindhoven, The Netherlands |
| Abstract: | Methylmalonic aciduria and Hartnup disorder are two rare autosomal recessively inherited metabolic disorders. We have described the coexistence of these disorders within the same pedigree in two unrelated families. This association was not found in 57 other families surveyed because of a proband known to have either methylmalonic aciduria or Hartnup disorder. |
| Keywords: | Genetic linkage Hartnup disorder methylmalonic aciduria |