Oxidative phosphorylation defect associated with primary adrenal insufficiency

An 18-month-old girl with an oxidative phosphorylation defect had neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and primary adrenal insufficiency. Chronic lactic acidosis responded to treatment with dichloroacetate. Sequential muscle biopsies demonstrated re...

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Bibliographic Details
Published in:The Journal of pediatrics 1996-05, Vol.128 (5), p.688-692
Main Authors: North, Kathryn, Korson, Mark S., Krawiecki, Nicolas, Shoffner, John M., Holm, Ingrid A.
Format: Article
Language:English
Subjects:
Acidosis, Lactic - complications
Acidosis, Lactic - drug therapy
Acidosis, Lactic - metabolism
Adrenocorticotropic Hormone - deficiency
Biological and medical sciences
Cataract - complications
Dichloroacetic Acid - therapeutic use
Errors of metabolism
Female
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors - complications
Lipid Metabolism, Inborn Errors - metabolism
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Mitochondria, Muscle - metabolism
Oxidative Phosphorylation
Phenotype
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Summary:An 18-month-old girl with an oxidative phosphorylation defect had neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and primary adrenal insufficiency. Chronic lactic acidosis responded to treatment with dichloroacetate. Sequential muscle biopsies demonstrated resolution of the lipid storage myopathy associated with the return to normal muscle free carnitine levels. This case demonstrates a new clinical phenotype associated with a defect in oxidative phosphorylation and the need to consider mitochondrial disorders in the differential diagnosis of primary adrenal insufficiency in childhood.
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(96)80136-3