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Histidinemia: Biochemistry and Behavior

Histidinemia: Biochemistry and Behavior Abstract Time was when histidinemia was considered a rare, exotic entity, relegated to specialists and academic researchers. However, there are mounting reasons for revising this attitude. For one thing, we now realize that this inborn error of metabolism is hardly rare. An incidence of one in 14,000 has been reported in the United States,1 and studies in other parts of the world have shown rates ranging from one in 11,0002 to one in 17,000.3 In the article on histidinemia published in this issue (see p 227), Ito and co-workers note that in Japan one person in 10,000 may be histidinemic. In the United States, screening for histidinemia is now mandatory in at least one state (New York). Moreover, the implications of this law for physicians at large clearly transcend state boundaries, and it behooves all American physicians to be aware of this condition. To what extent dietary management References 1. Levy HL: Biochemical detection of genetic diseases. Read before the Fogarty International Conference on Ethical Problems in Human Genetics, Bethesda, Md, May 19, 1970. 2. Veale AMO, Lyon ICT, Houston IB: Multiple screening for inborn errors of metabolism in New Zealand and other countries in Pacific basin. Abstract from the meeting of the European Society for Pediatric Research, Heidelberg, Germany, Sept 13, 1972. 3. Thalhammer O: Austria newborn screening program for inborn errors of metabolism. Abstract from the meeting of the European Society for Pediatric Research, Heidelberg, Germany, Sept 13, 1972. 4. Ghadimi H, Partington MW, Hunter A, et al: An inborn error of histidine metabolism mimicking phenylketonuria. Abstract from the meeting of the European Society for Pediatric Research, Atlantic City, NJ, 1961. 5. Snyderman SE, Boyer A, Riotman E, et al: The histidine requirement of the infant . Pediatrics 1963;31:786-801. 6. Gatfield PD, Knights RM, Devereuz M, et al: Histidinemia: Report of four new cases in one family and the effect of low-histidine diets . Can Med Assoc J 1969;101:465-469. 7. Zannoni VG, LaDu BN: Determination of histidine α-deaminase in human stratum corneum and its absence in histidinemia . Biochem J 1963;88:160-162. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Histidinemia: Biochemistry and Behavior

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References (3)

Publisher
American Medical Association
Copyright
Copyright © 1981 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1981.02130270002002
Publisher site
See Article on Publisher Site

Abstract

Abstract Time was when histidinemia was considered a rare, exotic entity, relegated to specialists and academic researchers. However, there are mounting reasons for revising this attitude. For one thing, we now realize that this inborn error of metabolism is hardly rare. An incidence of one in 14,000 has been reported in the United States,1 and studies in other parts of the world have shown rates ranging from one in 11,0002 to one in 17,000.3 In the article on histidinemia published in this issue (see p 227), Ito and co-workers note that in Japan one person in 10,000 may be histidinemic. In the United States, screening for histidinemia is now mandatory in at least one state (New York). Moreover, the implications of this law for physicians at large clearly transcend state boundaries, and it behooves all American physicians to be aware of this condition. To what extent dietary management References 1. Levy HL: Biochemical detection of genetic diseases. Read before the Fogarty International Conference on Ethical Problems in Human Genetics, Bethesda, Md, May 19, 1970. 2. Veale AMO, Lyon ICT, Houston IB: Multiple screening for inborn errors of metabolism in New Zealand and other countries in Pacific basin. Abstract from the meeting of the European Society for Pediatric Research, Heidelberg, Germany, Sept 13, 1972. 3. Thalhammer O: Austria newborn screening program for inborn errors of metabolism. Abstract from the meeting of the European Society for Pediatric Research, Heidelberg, Germany, Sept 13, 1972. 4. Ghadimi H, Partington MW, Hunter A, et al: An inborn error of histidine metabolism mimicking phenylketonuria. Abstract from the meeting of the European Society for Pediatric Research, Atlantic City, NJ, 1961. 5. Snyderman SE, Boyer A, Riotman E, et al: The histidine requirement of the infant . Pediatrics 1963;31:786-801. 6. Gatfield PD, Knights RM, Devereuz M, et al: Histidinemia: Report of four new cases in one family and the effect of low-histidine diets . Can Med Assoc J 1969;101:465-469. 7. Zannoni VG, LaDu BN: Determination of histidine α-deaminase in human stratum corneum and its absence in histidinemia . Biochem J 1963;88:160-162.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Mar 1, 1981

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