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Related Experiment Videos

Oxidative phosphorylation defect associated with primary adrenal insufficiency

K North1, M S Korson, N Krawiecki

  • 1Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA.

The Journal of Pediatrics
|May 1, 1996
PubMed
Summary

A mitochondrial disorder caused lactic acidosis, myopathy, cataracts, and adrenal insufficiency in an infant. Treatment with dichloroacetate resolved acidosis and myopathy, highlighting mitochondrial disease in adrenal insufficiency diagnosis.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mitochondrial disorders, specifically defects in oxidative phosphorylation, can present with a wide range of clinical manifestations.
  • Primary adrenal insufficiency in childhood is often idiopathic or associated with specific genetic syndromes, but mitochondrial causes are less commonly considered.

Observation:

  • An 18-month-old female presented with neonatal onset of chronic lactic acidosis, lipid storage myopathy, bilateral cataracts, and primary adrenal insufficiency.
  • Muscle biopsies revealed lipid accumulation, consistent with lipid storage myopathy.

Findings:

  • The patient's chronic lactic acidosis responded favorably to treatment with dichloroacetate.
  • Muscle biopsies after treatment showed resolution of lipid storage myopathy.

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  • Muscle free carnitine levels normalized following treatment and resolution of myopathy.

    • Implications:

    • This case expands the known clinical phenotype associated with oxidative phosphorylation defects.
    • It underscores the importance of considering mitochondrial disorders in the differential diagnosis of primary adrenal insufficiency in pediatric patients.
    • Early diagnosis and targeted treatment, such as with dichloroacetate, can lead to significant clinical improvement.