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Primary adrenal insufficiency in a child with a mitochondrial DNA deletion
Author(s) -
Bruno C.,
Minetti C.,
Tang Y.,
Magalhães P. J.,
Santorelli F. M.,
Shanske S.,
Bado M.,
Cordone G.,
Gatti R.,
DiMauro S.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005347826664
Subject(s) - proband , mitochondrial dna , mitochondrial disease , mitochondrial myopathy , adrenal insufficiency , respiratory chain , skeletal muscle , biology , oxidative phosphorylation , mitochondrion , endocrinology , mitochondrial respiratory chain , primary adrenal insufficiency , melas syndrome , medicine , genetics , mutation , gene , biochemistry
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.