| Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. | |
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MedLine Citation:
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PMID: 7322688 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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L Sweetman; L Surh; H Baker; R M Peterson; W L Nyhan |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Pediatrics Volume: 68 ISSN: 0031-4005 ISO Abbreviation: Pediatrics Publication Date: 1981 Oct |
Date Detail:
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Created Date: 1982-03-26 Completed Date: 1982-03-26 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 553-8 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alopecia
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etiology* Biotin / deficiency* Carbon-Carbon Ligases* Carboxy-Lyases / deficiency Child Citrates / urine Diet / adverse effects* Egg Proteins / adverse effects* Facial Dermatoses / etiology Glycine / analogs & derivatives, urine Humans Hydroxy Acids / urine Ligases / deficiency Male Methylmalonyl-CoA Decarboxylase Propionates / deficiency Skin Diseases / etiology* |
| Grant Support | |
ID/Acronym/Agency:
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HD04608/HD/NICHD NIH HHS; RR-00827/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Citrates; 0/Egg Proteins; 0/Hydroxy Acids; 0/Propionates; 33008-07-0/beta-methylcrotonylglycine; 56-40-6/Glycine; 58-85-5/Biotin; 6061-96-7/2-methylcitric acid; EC 4.1.1.-/Carboxy-Lyases; EC 4.1.1.41/Methylmalonyl-CoA Decarboxylase; EC 6.-/Ligases; EC 6.4.-/Carbon-Carbon Ligases; EC 6.4.1.4/methylcrotonoyl-CoA carboxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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