PEDIATRICS Vol. 34 No. 4 October 1964, pp. 454-472
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Snyderman, S. E.
Right arrow Articles by Holt, L. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Snyderman, S. E.
Right arrow Articles by Holt, L. E., Jr.

MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY

Selma E. Snyderman 1, Patricia M. Norton 1, Ellen Roitman 1, and L. Emmett Holt Jr. 1

1 Department of Pediatrics, New York University School of Medicine, and the Pediatric Service, Bellevue Hospital, New York City

1. Our experiences with 7 patients with maple syrup urine disease are described.

2. It has been shown that the abnormal biochemistry and the neurological manifestations of maple syrup urine disease can be controlled by a diet low in the branched chain amino acids—leucine, isoleucine, and valine. If control is instituted sufficiently early, there is evidence that mental defect can be prevented.

3. A fourth abnormal amino acid, formerly thought to be methionine, has now been identified as alloisoieucine and evidence has been obtained that this is formed from isoleucine. Indications for restricting the methionine intake no longer exist.

4. Some of the hazards of dietotherapy in this disease are discussed, among them the existence of an unknown nutritional factor which is deficient in synthetic diets containing all the known dietary essentials.

5. The limitations of exchange transfusion for the immediate initial therapy of the disease are pointed out.

Submitted on March 6, 1964
Accepted on March 31, 1964




This article has been cited by other articles:


Home page
 J. Nutr.Home page
D. T. Chuang, J. L. Chuang, and R. M. Wynn
Lessons from Genetic Disorders of Branched-Chain Amino Acid Metabolism
J. Nutr., January 1, 2006; 136(1): 243S - 249S.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
P. Schadewaldt, A. Bodner-Leidecker, H.-W. Hammen, and U. Wendel
Significance of L-Alloisoleucine in Plasma for Diagnosis of Maple Syrup Urine Disease
Clin. Chem., October 1, 1999; 45(10): 1734 - 1740.
[Abstract] [Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
M WAJNER and C R VARGAS
Reduction of plasma concentrations of large neutral amino acids in patients with maple syrup urine disease during crises
Arch. Dis. Child., June 1, 1999; 80(6): 579 - 579.
[Full Text]

Home page
 CLIN PEDIATRHome page
J. W. Mace, S. I. Goodman, W. R. Centerwall, and R. F. Chinnock
The Child with an Unusual Odor: A Clinical Resume
Clinical Pediatrics, January 1, 1976; 15(1): 57 - 62.
[PDF]