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Article

Oxidative phosphorylation defect associated with primary adrenal insufficiency.

The Journal of pediatrics - 1 May 1996

North K, Korson M S, Krawiecki N, Shoffner J M, Holm I A

Abstract excerpt

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...

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Share to Acidosis, Lactic
Share to Adrenocorticotropic Hormone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Lipid Metabolism, Inborn Errors

Share to Mitochondria, Muscle

Share to Oxidative Phosphorylation

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Source

Identifiers

PMID: 8627443
DOI: 10.1016/s0022-3476(96)80136-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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