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Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria
B A Barshop1, W L Nyhan, R K Naviaux
1Departments of Pediatrics, Medicine and Neurosciences, The Institute of Molecular Genetics, University of California San Diego, California 92093, USA.
Molecular Genetics and Metabolism
|February 3, 2000
Summary
A patient with organic acidemia experienced recovery, but later developed Kearns-Sayre syndrome. A mitochondrial genome deletion was identified, linking these conditions.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Organic acidemias are inherited metabolic disorders.
- Kearns-Sayre syndrome is a rare mitochondrial disease.
Observation:
- A patient presented with 2-oxoadipic aciduria and 2-aminoadipic aciduria at age 2, showing symptoms of organic acidemia.
- The patient recovered from the initial metabolic crisis.
- At age 9, the patient developed Kearns-Sayre syndrome, including heart block, retinopathy, and ophthalmoplegia.
Findings:
- Metabolites associated with organic acidemia resolved in urine and blood.
- Southern blot analysis revealed a deletion in the mitochondrial genome.
Implications:
- This case suggests a potential link between organic acidemias and mitochondrial disorders.
- Mitochondrial genome deletions may underlie complex phenotypes involving metabolic and neurological symptoms.
- Further research is needed to elucidate the precise mechanisms connecting these conditions.