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Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and
T Sluysmans1, D Tuerlinckx, C Hubinont
1Department of Cardiologie pédiatrique, Université Catholique de Louvain, Brussels, Belgium.
Insights
A fatty acid oxidation defect, specifically very long chain acyl-coenzyme A dehydrogenase deficiency, was diagnosed in a boy presenting with neonatal seizure and metabolic acidosis. Prenatal diagnosis in a sibling allowed for early monitoring and prevention of neonatal injury.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Fatty acid oxidation defects are inherited metabolic disorders that can lead to severe health complications.
- Very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a rare inborn error of metabolism affecting fatty acid breakdown.
- Neonatal presentation of metabolic disorders can be challenging to diagnose, often requiring advanced biochemical and genetic testing.
Observation:
- A male infant presented with neonatal seizure, lethargy, and metabolic acidosis, followed by a recurrence at 10 months with cardiomyopathy and dicarboxylic aciduria.
- Enzyme assay on cultured fibroblasts confirmed very long chain acyl-coenzyme A dehydrogenase deficiency.
- Prenatal diagnosis was achieved through enzyme assay on cultured amniotic cells from a sibling fetus.
Findings:
- The study identified very long chain acyl-coenzyme A dehydrogenase deficiency as the cause of recurrent metabolic decompensation.
- Enzyme activity assays in fibroblasts and amniotic cells confirmed the diagnosis and enabled prenatal detection.
- Dicarboxylic aciduria and cardiomyopathy were key clinical indicators pointing towards a fatty acid oxidation defect.
Implications:
- Early diagnosis and intervention are crucial for improving the prognosis of very long chain acyl-coenzyme A dehydrogenase deficiency.
- Prenatal diagnosis allows for proactive management strategies to prevent severe neonatal complications.
- This case highlights the importance of considering fatty acid oxidation defects in neonates with unexplained metabolic acidosis and seizures.
Abstract:
A boy had neonatal seizure, lethargy, and metabolic acidosis at presentation. He recovered completely, but the recurrence of a similar episode with associated cardiomyopathy and dicarboxylic aciduria at 10 months of age led to the recognition of a fatty acid oxidation defect. A diagnosis of very long chain acyl-coenzyme A dehydrogenase deficiency was later made by enzyme assay in culture fibroblasts from this child, as well as in cultured amniotic cells from a sibling fetus. This prenatal diagnosis forestalled neonatal injury by close clinical and metabolic monitoring of the second infant. Early diagnosis and management should potentially improve the generally poor prognosis for patients with very long chain acyl-coenzyme A dehydrogenase deficiency.