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Stroke, hemiparesis and deficient mitochondrial beta-oxidation
L Vallée1, M Fontaine, J P Nuyts
1North France Center for the Study of Childhood Epilepsy, Hôpital B, Centre Hospitalo-Universitaire de Lille, France.
European Journal of Pediatrics
|August 1, 1994
Summary
Glutaric aciduria type II, a metabolic disorder, can manifest with stroke-like symptoms and epilepsy. This case highlights its potential to mimic other neurological conditions, emphasizing the need for comprehensive metabolic investigations.
Area of Science:
- Biochemistry
- Neurology
- Metabolic Disorders
Background:
- This study details a case of a 3-year-old child presenting with hemiplegia and epilepsy following a cerebral vascular accident.
- Initial metabolic investigations, including urinary organic acids and amino acids, were normal.
Observation:
- Pathological blood carnitine levels indicated a secondary carnitine deficiency, treated with L-carnitine supplementation.
- Treatment revealed abnormal urinary acylcarnitine profiles with elevated levels of various carnitine esters.
- A clinical decompensation crisis led to the identification of glutaric aciduria type II through urinary organic acid analysis.
Findings:
- Skeletal muscle and skin fibroblast studies confirmed a defect in mitochondrial beta-oxidation pathways.
- Evidence included lipidic myopathy and reduced oxidation rates for palmitate and octanoate in fibroblasts.
- This confirmed glutaric aciduria type II as the underlying metabolic disorder.
Implications:
- Glutaric aciduria type II is now recognized as a metabolic disorder contributing to neurological sequelae like hemiplegia and epilepsy.
- The findings expand the differential diagnosis for stroke-like presentations and neurological deficits in children.
- This case underscores the importance of thorough metabolic screening in pediatric neurological emergencies.