医学
生物素缺乏
生物素
内科学
内分泌学
生物素酶缺乏
生理学
作者
Lawrence Sweetman,Linda Surh,Herman Baker,Raymond M. Peterson,William L. Nyhan
出处
期刊:Pediatrics
[American Academy of Pediatrics]
日期:1981-10-01
卷期号:68 (4): 553-558
被引量:54
标识
DOI:10.1542/peds.68.4.553
摘要
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.
科研通智能强力驱动
Strongly Powered by AbleSci AI