title: Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin.
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.
mesh_terms: D000505:Alopecia / Q000209:etiology*; D001710:Biotin / Q000172:deficiency*; D019735:Carbon-Carbon Ligases; D002262:Carboxy-Lyases / Q000172:deficiency; D002648:Child; D002951:Citrates / Q000652:urine; D004032:Diet / Q000009:adverse effects*; D004527:Egg Proteins / Q000009:adverse effects*; D005148:Facial Dermatoses / Q000209:etiology; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D008025:Ligases / Q000172:deficiency; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase; D011422:Propionates / Q000172:deficiency; D012871:Skin Diseases / Q000209:etiology*
chemical_list: D002951:Citrates; D004527:Egg Proteins; D006880:Hydroxy Acids; D011422:Propionates; C002163:beta-methylcrotonylglycine; C031605:2-methylcitric acid; D001710:Biotin; D002262:Carboxy-Lyases; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D043586:Methylmalonyl-CoA Decarboxylase; D005998:Glycine