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Updated: Jun 2, 2026
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
[Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria]
Yan-Yan Ma1, Jin-Qing Song, Tong-Fei Wu
1Department of Pediatrics, First Affiliated Hospital of Peking University, Beijing 100034, China.
Summary
Late-onset 3-hydroxy-3-methylglutaric aciduria, a rare metabolic disorder, presented in a 7-year-old boy with neurological symptoms and leucodystrophy. Treatment with L-carnitine and glucose improved his condition and reduced acid levels.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Neuroscience
Background:
- 3-Hydroxy-3-methylglutaric aciduria is a rare organic acid metabolism disorder.
- Typically presents in neonates/infants due to 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Observation:
- A 7-year-old boy presented with late-onset 3-hydroxy-3-methylglutaric aciduria.
- Symptoms included headache, drowsiness, vomiting, hepatic lesions, ketosis, and leucopenia.
- MRI revealed symmetrical diffused leucodystrophy.
Findings:
- Elevated blood isovalerylcarnitine and acetylcarnitine.
- Significantly increased urinary levels of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid, 3-hydroxyglutaric acid, and 3-methyl-crotonylglycine.
- Successful symptom relief and health improvement following L-carnitine and glucose infusion.
Implications:
- This case highlights a rare late-onset presentation of 3-hydroxy-3-methylglutaric aciduria.
- Suggests leucodystrophy as a complication in this metabolic disorder.
- Demonstrates the efficacy of L-carnitine and glucose in managing late-onset 3-hydroxy-3-methylglutaric aciduria.
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