Inborn Errors of Metabolism: A New Purview of Internal Medicine
Authors: Stanton Segal
Journal: Annals of Internal Medicine (1994)

Editorials1 February 1994Inborn Errors of Metabolism: A New Purview of Internal MedicineStanton Segal, MD and Karl S. Roth, MDStanton Segal, MDThe Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104. Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298-0239. and Karl S. Roth, MDThe Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104. Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298-0239.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-120-3-199402010-00013 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Historically, the diagnosis and care of patients with inborn errors of metabolism have been the realm of pediatricians. That most of these have been thought to present exclusively in infancy and childhood and that screening programs for several exist in 40 states have served to establish the boundaries. Early diagnosis, excellent dietary management, biochemical interventions, and good general medical care, however, have begun to erase the previous limits, with a steadily increasing number of patients with inherited biochemical defects surviving into adulthood. The article by Talente and colleagues [1] in this issue of Annals, detailing the medical complications found in ...References1. Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, et al. Glycogen storage disease in adults. Ann Intern Med. 1994; 120:218-26. Google Scholar2. Sethi KD, Ray R, Roesel RA, Carter AL, Gallagher BB, Loring DW, et al. Adult-onset chorea and dementia with propionic acidemia. Neurology. 1989; 39:1343-5. Google Scholar3. Akaboshi I, Endo F, Matsuda I, Saheki T. Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia. J Inherit Metab Dis. 1983; 6:36-9. Google Scholar4. Navon R, Argov Z, Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet. 1986; 24:179-96. Google Scholar5. Dusheiko G, Kew MC, Joffee BI, Lewin JR, Mantagos S, Tanaka K. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. N Engl J Med. 1979; 301:1405-9. Google Scholar6. Rowe PC, Newman SL, Brusilow SW. The natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med. 1986; 314:541-7. Google Scholar7. Arn Ph, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in a woman with a mutation at the ornithine transcarbamylase locus. A cause of postpartum coma. N Engl J Med. 1990; 322:1652-5. Google Scholar8. DiMauro S, Bonilla E, Lombes A, Shanske S, Minetti C, Moraes CT. Mitochondrial encephalomyopathies. Neurol Clin. 1990; 8:483-506. Google Scholar9. Shoffner JM, Wallace DC. Mitochondrial genetics: principles and practice (Editorial). Am J Hum Genet. 1992; 51:1179-86. Google Scholar10. Wallace DC. Mitochondrial genetics: a paradigm for aging and degenerative diseases? Science. 1992; 256:628-32. Google Scholar Author, Article, and Disclosure InformationAffiliations: The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104. Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298-0239.Corresponding Author: Stanton Segal, MD, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoGlycogen Storage Disease in Adults Gregg M. Talente , Rosalind A. Coleman , Craig Alter , Lester Baker , Barbara I. Brown , Robert A. Cannon , Yong-Tsong Chen , John F. Crigler , P. Ferreira , James C. Haworth , Gail E. Herman , Robert M. Issenman , James P. Keating , Randy Linde , Thomas F. Roe , Boris Senior , and Joseph I. Wolfsdorf Metrics Cited ByClouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinicsTransition bei angeborenen StoffwechselkrankheitenHyperammonemia in the ICUHyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency 1 February 1994Volume 120, Issue 3Page: 245-246KeywordsDNAEnergy metabolismEnzymesInborn errors of metabolismLactic acidMitochondriaMitochondrial DNAMolecular biologyMutationSub-specialty care Issue Published: 1 February 1994 CopyrightCopyright © 1994 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...