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Sidbury's syndrome
Also known as:
Sidbury-Smith-Harlan syndrome
Sidbury-Harlan-Wittels syndrome
Associated persons:
William R. Harlan
James Buren Sidbury, Jr.
E. K. Smith
Benjamin Wittels
Description:
Rare inheritable defect of leucine metabolism in which there is deficiency of Isovaleryl-CoA-Dehydrogenase. This results in malodorous sweat, particularly a urinous odour from sweaty feet, vomiting, acidosis and lethargy, and there is sometimes an associated thrombocytopenia. Coma and death may occur. Inheritance is autosomal recessive. First described in 1962, and by Tanaka and associates in 1966.
Bibliography:
- J. B. Sidbury, E. K. Smith, W. Harlan:
An inborn error of short-chain fatty acid metabolism.
Journal of Pediatrics, St. Louis, 1967, 70: 8-15.
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