Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You and Your Team.

Learn More →

Isovaleric Acidemia

Isovaleric Acidemia Abstract DURING the past two years, we have studied a brother and sister, now aged 3½ and 5 years, with a previously-undescribed disorder of leucine metabolism resulting in excessive accumulation of isovaleric acid in the body fluids1 (Fig 1). Both children have mild mental retardation, smell of isovaleric acid (the odor of sweaty feet), and experience periodic bouts of vomiting, acidosis, and lethargy or coma. These attacks are usually associated with infection or immoderate protein ingestion, and are characterized by marked intensification of the odor and an increase in the blood concentration of isovaleric acid. With glucose and electrolyte therapy, the attacks have subsided gradually over a few days; during the recovery phase, ataxia and intention tremor have been noted. The only other abnormal physical findings are mottling of the fundus and congenital retinal vessel tortuosity in both patients. Neither the parents nor the normal brother have these features. References 1. Tanaka, K., et al: Isovaleric Acidemia: A New Genetic Defect of Leucine Metabolism , Proc Natl Acad Sci 56:236-242 ( (Aug) ) 1966.Crossref 2. Dancis, J., and Levitz, M.: " Maple Syrup Urine Disease (Branched Chain Ketonuria) ," in the Metabolic Basis of Inherited Disease , ed 2, J. B. Stanbury; J.B. Wyngaarden; and D.S. Fredrickson (eds.), New York: McGraw Hill, 1966, p 353-365. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Loading next page...
 
/lp/american-medical-association/isovaleric-acidemia-zLRwfHe1vs
Publisher
American Medical Association
Copyright
Copyright © 1967 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1967.02090160124015
Publisher site
See Article on Publisher Site

Abstract

Abstract DURING the past two years, we have studied a brother and sister, now aged 3½ and 5 years, with a previously-undescribed disorder of leucine metabolism resulting in excessive accumulation of isovaleric acid in the body fluids1 (Fig 1). Both children have mild mental retardation, smell of isovaleric acid (the odor of sweaty feet), and experience periodic bouts of vomiting, acidosis, and lethargy or coma. These attacks are usually associated with infection or immoderate protein ingestion, and are characterized by marked intensification of the odor and an increase in the blood concentration of isovaleric acid. With glucose and electrolyte therapy, the attacks have subsided gradually over a few days; during the recovery phase, ataxia and intention tremor have been noted. The only other abnormal physical findings are mottling of the fundus and congenital retinal vessel tortuosity in both patients. Neither the parents nor the normal brother have these features. References 1. Tanaka, K., et al: Isovaleric Acidemia: A New Genetic Defect of Leucine Metabolism , Proc Natl Acad Sci 56:236-242 ( (Aug) ) 1966.Crossref 2. Dancis, J., and Levitz, M.: " Maple Syrup Urine Disease (Branched Chain Ketonuria) ," in the Metabolic Basis of Inherited Disease , ed 2, J. B. Stanbury; J.B. Wyngaarden; and D.S. Fredrickson (eds.), New York: McGraw Hill, 1966, p 353-365.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jan 1, 1967

References