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Neurochemical changes in Leigh's disease
Journal of Nutritional Science and Vitaminology
|August 1, 1976
Summary
Children with Leigh disease showed normal liver pyruvate carboxylase but altered brain thiamine levels. Researchers suggest a cerebral thiamine triphosphate deficiency may cause Leigh and Wernicke disease pathology.
Area of Science:
- Biochemistry
- Neurology
- Pediatrics
Background:
- Leigh disease is a severe neurological disorder affecting infants and children.
- Wernicke disease, often associated with alcoholism, shares some neuropathological features with Leigh disease.
- Thiamine (vitamin B1) is crucial for energy metabolism, particularly in the brain.
Purpose of the Study:
- To investigate thiamine ester levels in the liver and brain of children with Leigh disease.
- To explore the potential role of specific thiamine metabolites in the pathogenesis of Leigh and Wernicke diseases.
Main Methods:
- Assessed hepatic pyruvate carboxylase activity in affected children.
- Measured cerebral thiamine diphosphate and thiamine triphosphate concentrations.
- Analyzed thiamine ester levels in both liver and brain tissues.
Main Results:
- Children with Leigh disease exhibited normal hepatic pyruvate carboxylase activity.
- Significantly increased cerebral thiamine diphosphate was observed.
- A marked decrease in cerebral thiamine triphosphate was a key finding.
- Thiamine ester levels in the liver remained within normal ranges.
Conclusions:
- The study suggests that Leigh disease may not stem from a general pyruvate carboxylase deficiency.
- A localized deficiency in cerebral thiamine triphosphate is proposed as a potential cause for the observed neuropathology in Leigh disease.
- This cerebral thiamine triphosphate deficiency might also underlie the similar histological changes seen in Wernicke disease.