Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.

British medical journal ·Vol. 1 ·No. 5114 ·1959-01-10 ·Pages 90-1

MACKENZIE DY, WOOLF LI

Abstract

暂无摘要

Keywords

LEUCINE/metabolism MENTAL DEFICIENCY METABOLIC DISEASES/in infant and child

MeSH Terms

Biochemical Phenomena Child Humans Infant Intellectual Disability Isoleucine Leucine/metabolism Maple Syrup Urine Disease Metabolic Diseases Valine

Chemicals

Isoleucine Leucine Valine

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

MACKENZIE D Y

WOOLF L I

References (5)

5 references, click to expand

The dietary treatment of phenylketonuria.
Arch Dis Child. 1958 Feb;33(167):31-45 PMID: 13509741
Paper chromatography of urinary indoles.
Lancet. 1955 Nov 12;269(6898):1009-11 PMID: 13272319
Familial hypoglycemia precipitated by amino acids.
J Clin Invest. 1956 Apr;35(4):411-22 PMID: 13306783
A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.
Pediatrics. 1954 Nov;14(5):462-7 PMID: 13214961
An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid.
Arch Dis Child. 1958 Apr;33(168):109-13 PMID: 13534741

Article Info

Journal

British medical journal

Abbr.

Br Med J

ISSN

0007-1447

DOI

Published

1959-01-10

Pages

90-1

Language

English

Region

England

NLM ID

0372673

PMCID

PMC1992202

Subset

External Links

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