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Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
Aditya Murgai1, Aviraj Deshmukh1, Vinod Puri1
1Department of Neurology, GB Pant Institute of Post Graduate Medical Education and Research, New Delhi, India.
Journal of Pediatric Neurosciences
|July 14, 2015
Summary
A child with developmental delays, seizures, and myoclonus worsened on valproate. Treatment change to hydroxocobalamin improved symptoms, revealing a potential metabolic disorder.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Metabolic Disorders
Background:
- Developmental delay and epilepsy in children can indicate underlying metabolic disorders.
- Valproate is a common antiepileptic drug, but its use can sometimes unmask or exacerbate certain metabolic conditions.
Observation:
- An 11-year-old male presented with delayed milestones, recurrent myoclonus, and generalized tonic-clonic seizures.
- Clinical status worsened after the initiation of valproate therapy.
Findings:
- Laboratory investigations revealed elevated serum lactate levels and significant methylmalonic aciduria.
- Withdrawal of valproate and administration of hydroxocobalamin led to remarkable clinical improvement.
Implications:
- These findings suggest a potential diagnosis of a vitamin B12-responsive metabolic disorder.
- Highlighting the importance of considering metabolic evaluations in pediatric epilepsy, especially when valproate causes adverse effects.
- Suggests hydroxocobalamin as a potential therapeutic agent for specific metabolic encephalopathies.
Keywords:
Anti-epileptic drugVitamin B12 deficiencymethylmalonic aciduriamulti focal spikes in electroencephalogramorganic aciduriavalproic acidMore Related Videos
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