Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.
case_report · Level V
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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.
Medical subject headings
- Ascorbic Acid
- Electron Transport Complex III
- Metabolism, Inborn Errors
- Pruritus
- Vitamin K