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Occurrences of methylmalonic aciduria and Hartnup disorder in the same family
Author(s) -
Shih V. E.,
Coulombe J. T.,
Wadman S. K.,
Duran M.,
Waelkens J. J. J.
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb04370.x
Subject(s) - methylmalonic aciduria , genetics , medicine , pediatrics , biology , methylmalonic acid , endocrinology , vitamin b12
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 assocation was not found in 57 other families surveyed because of a proband known to have either methylmalonic aciduria or Hartnup disorder.