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[Generalized epilepsy disclosing medium-chain-acyl-CoA dehydrogenase deficiency]
B Chabrol1, J Mancini, C Bertrand
1Service de Neurologie Pédiatrique, Hôpital d'Enfants, CHU Timone, Marseille.
Archives Francaises De Pediatrie
|June 1, 1993
Summary
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a common inherited metabolic disorder, can be diagnosed through urine analysis and genetic testing. Early diagnosis and management are crucial for preventing severe symptoms in affected individuals.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most prevalent inherited disorder of fatty acid beta-oxidation.
- Early diagnosis is critical due to potentially life-threatening symptoms associated with MCAD deficiency.
Observation:
- A 3-month-old boy presented with seizures, hepatomegaly, and fever, initially suspected to be viral meningitis.
- Urine analysis revealed elevated lactate and specific dicarboxylic acids, hydroxyhexanoate, 7-hydroxyoctanoate, hexanoylglycine, and suberylglycine, indicative of MCAD deficiency.
- Molecular studies confirmed a G985 mutation, with parents identified as heterozygotes.
Findings:
- The patient's condition improved significantly with caloric intake management and avoidance of fasting.
- Despite the absence of hypoglycemia, the diagnostic profile strongly suggested MCAD deficiency.
- Genetic testing identified the specific mutation responsible for the deficiency.
Implications:
- This case highlights the importance of considering metabolic disorders in infants presenting with neurological symptoms.
- Early molecular diagnosis facilitates prompt identification and management of affected siblings.
- Effective management, including dietary adjustments, can lead to excellent clinical outcomes in MCAD deficiency.