Primary adrenal insufficiency in a child with a mitochondrial DNA deletion

C. Bruno, C. Minetti, Y. Tang, P. J. Magalhães, F. M. Santorelli, S. Shanske, M. Bado, G. Cordone, R. Gatti, S. DiMauro

Research output: Contribution to journalArticlepeer-review

Abstract

Mitochondrial disorders can affect any organ system, but certain tissues, such as skeletal muscle, heart, and brain are more susceptible to oxidative phosphorylation defects because of their high energy requirements. Endocrinological manifestations, especially diabetes mellitus, are common but they rarely dominate the clinical picture. We describe a 5-year-old girl who died of primary adrenal insufficiency with a mitochondrial disease. Biochemical studies in muscle showed decreased respiratory chain enzyme activities. We detected a novel 7.0 kb mtDNA deletion in muscle from the proband, but not in her mother's white blood cells. Our findings further enlarge the spectrum of clinical presentation associated with mitochondrial DNA deletions.

Original languageEnglish
Pages (from-to)155-161
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume21
Issue number2
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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