TY - JOUR
T1 - Primary adrenal insufficiency in a child with a mitochondrial DNA deletion
AU - Bruno, C.
AU - Minetti, C.
AU - Tang, Y.
AU - Magalhães, P. J.
AU - Santorelli, F. M.
AU - Shanske, S.
AU - Bado, M.
AU - Cordone, G.
AU - Gatti, R.
AU - DiMauro, S.
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
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U2 - 10.1023/A:1005347826664
DO - 10.1023/A:1005347826664
M3 - Article
C2 - 9584267
AN - SCOPUS:6844258202
VL - 21
SP - 155
EP - 161
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 2
ER -