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Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly
1Division of Medical Genetics, Childrens Hospital Los Angeles, CA 90027, USA. rboles@chla.usc.edu
Journal of Inherited Metabolic Disease
|September 14, 2002
Insights
A 9-month-old boy with very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) experienced hypotonia, cardiomyopathy, and liver enlargement after viral gastroenteritis. Early diagnosis and treatment led to a successful outcome.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is an inherited metabolic disorder affecting fatty acid oxidation.
- VLCAD deficiency can manifest with diverse clinical symptoms, including cardiomyopathy and hypotonia, particularly in infants.
Observation:
- A 9-month-old male infant presented with generalized hypotonia, severe cardiomyopathy, and massive hepatomegaly.
- These symptoms emerged following a 10-day history of viral gastroenteritis.
Findings:
- The infant was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency.
- Genetic testing confirmed the diagnosis of VLCAD deficiency.
Implications:
- This case highlights the importance of considering inborn errors of metabolism, such as VLCAD deficiency, in infants presenting with unexplained cardiomyopathy and hypotonia, especially after a viral illness.
- Prompt diagnosis and appropriate management, including dietary modifications and supportive care, are crucial for successful treatment outcomes in VLCAD deficiency.
- Early intervention can prevent severe complications and improve the long-term prognosis for affected children.
Abstract:
A 9-month-old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency and has been successfully treated.