DOI: 10.1542/peds.32.2.234. THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (Branched-chain Ketoaciduria)

THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (Branched-chain Ketoaciduria)

10.1542/peds.32.2.234

Crossref journal-article

American Academy of Pediatrics (AAP)

Pediatrics (417)

Abstract

The metabolism of the three branched-chain amino acids has been investigated in vitro, using the peripheral leukocyte. The normal leukocyte can transaminate and decarboxylate the three amino acids. These functions are demonstrable at birth. Five cases of maple syrup urine disease (branched-chain ketoaciduria) were studied. The peripheral leukocyte could transaminate the three amino acids, but decarboxylation was greatly reduced or absent. This confirms the site of metabolic block in maple syrup urine disease, and suggests an early and specific approach to diagnosis. Oxidative-decarboxylation of the branched-chain ketoacids involves an enzyme common to all three ketoacids.

Bibliography

Dancis, J., Hutzler, J., & Levitz, M. (1963). THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (Branched-chain Ketoaciduria). Pediatrics, 32(2), 234â238.

Authors 3

Joseph Dancis (first)
Joel Hutzler (additional)
Mortimer Levitz (additional)

References 0 Referenced 61

None

Dates

Type	When
Created	3 years, 8 months ago (Dec. 10, 2021, 1:43 a.m.)
Deposited	3 years, 8 months ago (Dec. 10, 2021, 1:43 a.m.)
Indexed	3 months, 2 weeks ago (May 8, 2025, 10:17 a.m.)
Issued	62 years ago (Aug. 1, 1963)
Published	62 years ago (Aug. 1, 1963)
Published Online	62 years ago (Aug. 1, 1963)
Published Print	62 years ago (Aug. 1, 1963)

Funders 0

None

BibTeX

@article{Dancis_1963, title={THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (Branched-chain Ketoaciduria)}, volume={32}, ISSN={1098-4275}, url={http://dx.doi.org/10.1542/peds.32.2.234}, DOI={10.1542/peds.32.2.234}, number={2}, journal={Pediatrics}, publisher={American Academy of Pediatrics (AAP)}, author={Dancis, Joseph and Hutzler, Joel and Levitz, Mortimer}, year={1963}, month=aug, pages={234–238} }

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