Normal Muscle Respiratory Chain Enzymes Can Complicate Mitochondrial Disease Diagnosis

Devin Oglesbee, Debra Freedenberg, Karen A. Kramer, Bambi D. Anderson, Si Houn Hahn

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

This report presents a case of mitochondrial respiratory chain deficiency in a neonate with elevated plasma lactate, hypotonia, developmental delay, and dysmorphic features. The initial biochemical analyses of muscle tissue for mitochondrial function were normal. Additional testing on skin fibroblasts performed owing to a high clinical suspicion of a possible mitochondrial disorder indicated a deficiency of mitochondrial complex I. Western blotting of samples obtained both from muscle and fibroblast tissues also revealed an extensive defect in mitochondrial respiratory chain complex I, confirming the diagnosis. These observations underscore the fact that both enzymatic and immunological assays should be undertaken in alternate tissues when muscle biopsies are inconclusive in highly suspected cases.

Original languageEnglish (US)
Pages (from-to)289-292
Number of pages4
JournalPediatric Neurology
Volume35
Issue number4
DOIs
StatePublished - Oct 1 2006

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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