Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature

J Pediatr. 1999 Mar;134(3):352-4. doi: 10.1016/s0022-3476(99)70463-4.

Abstract

We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anemia, Iron-Deficiency / diagnosis
  • Anemia, Iron-Deficiency / drug therapy
  • Anemia, Iron-Deficiency / metabolism
  • Ascorbic Acid / therapeutic use*
  • Bile Acids and Salts / blood
  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / drug therapy
  • Developmental Disabilities / metabolism
  • Drug Therapy, Combination
  • Electron Transport
  • Electron Transport Complex III / deficiency*
  • Humans
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / metabolism
  • Pruritus / diagnosis
  • Pruritus / drug therapy*
  • Pruritus / metabolism
  • Vitamin K / therapeutic use*

Substances

  • Bile Acids and Salts
  • Vitamin K
  • Electron Transport Complex III
  • Ascorbic Acid