Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin

L. Sweetman, L. Surh, H. Baker, R. M. Peterson, W. L. Nyhan

Research output: Contribution to journalArticlepeer-review

59 Scopus citations

Abstract

Dietary deficiency of biotin was documented in an 11-year-old retarded boy as a consequence of a dietary prescription containing raw eggs. Clinical manifestations were alopecia totalis and an erythematous, exfoliative dermatosis. Metabolic characteristics included increased excretion of 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, 3-hydroxypropionic acid, methylcitric acid, and lactic acid, as well as a propensity for the development of ketosis. The activities of propionyl coenzyme A carboxylase and 3-methylcrotonyl coenzyme A carboxylase in extracts of leukocytes were deficient. Treatment with biotin and the removal of raw eggs, which contain the biotin-binding protein, avidin, from the diet led to the reversal of all of the clinical and metabolic manifestations observed.

Original languageEnglish (US)
Pages (from-to)553-558
Number of pages6
JournalPediatrics
Volume68
Issue number4
StatePublished - 1981
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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