Allotransplantation for the Treatment of Inborn Errors of Metabolism
Authors: Henry L. Nadler
Journal: Annals of Internal Medicine (1972)

Editorials1 August 1972Allotransplantation for the Treatment of Inborn Errors of MetabolismHENRY L. NADLER, M.D.HENRY L. NADLER, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-77-2-314 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptPossibilities for enzyme replacement therapy in patients with inborn errors of metabolism have drawn increasing interest during the past few years (1)*. The stimulus for this approach has come from the rapid advances in elucidation of the metabolic defects in these disorders, the early and accurate prenatal and postnatal detection of affected persons, the identification of carriers, and the relative ineffectiveness of other treatments in modifying the natural history of many of these diseases.Two methods for enzyme replacement have been used: direct enzyme infusion and allotransplantation. Enzyme infusions have been tried in a number of inborn errors of metabolism,...References1. DESNICKBERNLOHRKRIVIT RRW (editors): Enzyme Therapy in Genetic Diseases, Birth Defects: Original Article Series. New York, The National Foundation—March of Dimes, in press Google Scholar2. BAUDHUINHERSLOEB PHH: An electron microscopic and biochemical study of type II glycogenosis. Lab Invest 13:1139-1152, 1964 MedlineGoogle Scholar3. HUGSCHUBERTCHUCK GWG: Type II glycogenosis: treatment with extract of Aspergillus niger (abstract). Clin Res 16:345, 1968 Google Scholar4. LAUERMASCAVINASRACELA RJA: Administration of a mixture of fungal glucosidases to a patient with type II glycogenosis (Pompe's disease). Pediatrics 42:672-676, 1968 MedlineGoogle Scholar5. DE BARSEYJACQUEMINVAN HOOF TPF: Enzyme replacement in Pompe's disease: an attempt with purified human acid α-glucosidase, in Enzyme Therapy in Genetic Diseases, edited by DESNICK RJ, BERNLOHR RW, KRIVIT W. 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N Engl J Med 284:672-673, 1971 CrossrefMedlineGoogle Scholar17. GROTHHAGENFELDTDREBORG CLS: Splenic transplantation in a case of Gaucher's disease. Lancet 1:1260-1263, 1971 CrossrefMedlineGoogle Scholar18. DESNICKDESNICKBRADY SRR: Gaucher's disease: renal transplantation, in Enzyme Therapy in Genetic Diseases, edited by DESNICK RJ, BERNLOHR RW, KRIVIT W. New York, The National Foundation—March of Dimes, in press Google Scholar19. LUCASKEMPSONPALMER ZRJ: Renal allotransplantation in man. II. Transplantation in cystinosis, a metabolic disease. Am J Surg 118:158-168, 1969 CrossrefMedlineGoogle Scholar20. MAHONEYSTRIKERHICKMAN CGR: Renal transplantation for childhood cystinosis. N Engl J Med 283: 397-402, 1970 CrossrefMedlineGoogle Scholar21. BRIGGSKOMINANIWILSON WNR: Kidney transplantation in Fanconi syndrome. N Engl J Med 286:25, 1972 CrossrefMedlineGoogle Scholar22. GROTHDUBOISCORMAN CRJ: Hepatic transplantation in Wilson's disease, in Enzyme Therapy for Genetic Diseases, edited by DESNICK RJ, BERNLOHR RW, KRIVIT W. New York, The National Foundation—March of Dimes, in press Google Scholar23. DESNICKALLENSIMMONS RKR: Treatment of Fabry's disease: correction of the enzymatic deficiency by renal transplantation. J Lab Clin Med 78:989-990, 1971 MedlineGoogle Scholar24. DESNICKSIMMONSALLEN RRK: Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery. In press. Google Scholar25. PHILIPPARTFRANKLINGORDON MSA: Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. Ann Intern Med 77:195-200, 1972 LinkGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Department of Pediatrics The Children's Memorial Hospital Northwestern University Chicago, Ill.*I thank Dr. Robert J. Desnick for making available material to be included in the book Enzyme Therapy in Genetic Diseases. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited bySilicon Carbide, SiC 1 August 1972Volume 77, Issue 2Page: 314-316KeywordsEnzyme replacement therapyEnzymesGenetic diseasesInborn errors of metabolismMetabolic disordersNatural history of disease ePublished: 1 December 2008 Issue Published: 1 August 1972 PDF downloadLoading ...