References
Chang PL, Davidson RG (1983) Pseudo-arylsulfatase A deficiency in healthy individuals. Genetic and biochemical relationship to metachromatic leukodystrophy. Proc Natl Acad Sci USA 80: 7323–7327
Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ (1985) Absence of branched chain acyltransferase as a cause of maple syrup urine disease. J Clin Invest 75:858–860
Frézal J, Amédée-Manesme O, Mitchell G, Heuertz S, Rey F, Rey J, Saudubray JM (1985) Maple syrup urine disease: two different forms within a single family. Hum Genet 71:89–91
Langenbeck U (1984) Pathobiochemical and pathophysiologic analysis of the MSUD phenotype. In: Adibi SA, Fekl W, Langenbeck U, Schauder P (eds) Branched chain amino and ketoacids in health and disease. Karger, Basel, pp 315–334
Langenbeck U, Dunker P, Heipertz R, Pilz H (1977) Inheritance of metachromatic leukodystrophy. Am J Hum Genet 29:639–640
Saudubray JM, Amédée-Manesme O, Munnich A, Ogier H, Depondt E, Charpentier C, Coudé FX, Rey F, Frézal J (1982) Hétérogénéité de la leucinose. Corrélations entre l'aspect clinique, la tolérance protéique et le déficit enzymatique. Arch Fr Pédiatr 39:735–740
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Langenbeck, U. Two different forms of maple syrup urine disease in a single family. Hum Genet 72, 279 (1986). https://doi.org/10.1007/BF00291898
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00291898