Respiratory chain complex III deficiency with pruritus: A novel vitamin responsive clinical feature  

Oleh:

Mowat, David ; Kirby, Denise M. ; Kamath, K.Ramanand ; Kan, Alex ; Thorburn, David R. ; Christodoulou, John

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of Pediatrics vol. 134 no. 3 (Mar. 1999), page 352-354.
Topik: pruritus; vitamin

Ketersediaan

Perpustakaan FK Nomor Panggil: J45.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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.

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