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Cited by 413Metabolism and Genetic DisordersNeonatal Health and BiochemistryNeurological diseases and metabolism

A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE

MENKES, JOHN H., HURST, PETER L., CRAIG, JOHN M.·1954·Pediatrics
DOI 10.1542/peds.14.5.462
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Abstract

Four cases of a syndrome involving a rapidly progressive cerebral dysfunction and commencing during the first week of life are reported. In each of these cases the urine excreted had a peculiar odor resembling that of maple syrup. The pathogenesis of this condition is unexplained, although some anomaly of cerebral metabolism seems to be the most likely cause of the syndrome.

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  • Excessive amounts of BCAAs are toxic and can cause severe tissue damage, especially to the CNS, as evidenced from the neuropathology associated with maple syrup urine disease.

    “Although vital for normal physiological function, excessive amounts of BCAAs are considered toxic and can cause severe tissue damage, especially to the CNS, as evidenced from the neuropathology associated with maple syrup urine disease, an autosomal recessive metabolic disorder affecting BCAA levels (Menkes et al., 1954).”

    From The Microbiota-Gut-Brain Axis (2019) · cites this paper as Menkes et al., 1954

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Authors
MENKES, J. H., HURST, P. L., & CRAIG, J. M.
Affiliations
Harvard University (US)
ORCID
CRAIG, JOHN M.
Venue
Pediatrics
Publisher
American Academy of Pediatrics (AAP)
Published
1954-11-01
Volume
14
Issue
5
Pages
462-467
ISSN
  • 0031-4005 (ISSN-L)
  • 1098-4275
DOI
10.1542/peds.14.5.462
OpenAlex
W1953493409
Cited by
413
References
0
Citations by year
2026: 7 · 2025: 5 · 2024: 7 · 2023: 9 · 2022: 6 · 2021: 5 · 2020: 9 · 2019: 3 · 2018: 4 · 2017: 8 · 2016: 7 · 2015: 6 · 2014: 7 · 2013: 5 · 2012: 7
FWCI
0.78
Type
journal article
Language
en
Open access
closed
Locations
  • PEDIATRICS (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
maple syrup urine disease, urinary metabolite excretion, brain dysfunction, pathogenesis
MeSH terms
Brain, Brain Diseases, Humans, Infant, Infant, Newborn, Infant, Newborn, Diseases, Syndrome, Urinary Tract, Urine, Heredity

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