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

Pediatrics. 1981 Oct;68(4):553-8.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alopecia / 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
  • Glycine / urine
  • Humans
  • Hydroxy Acids / urine
  • Ligases / deficiency
  • Male
  • Methylmalonyl-CoA Decarboxylase
  • Propionates / deficiency
  • Skin Diseases / etiology*

Substances

  • Citrates
  • Egg Proteins
  • Hydroxy Acids
  • Propionates
  • beta-methylcrotonylglycine
  • 2-methylcitric acid
  • Biotin
  • Carboxy-Lyases
  • Ligases
  • Carbon-Carbon Ligases
  • methylcrotonoyl-CoA carboxylase
  • Methylmalonyl-CoA Decarboxylase
  • Glycine