Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly

Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder that can manifest with hepatic and muscular dysfunction. MADD can be fatal in neonates; however, late-onset MADD has a milder course and often becomes symptomatic during adulthood. A 20-year-old patient presented to...

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Bibliographic Details
Published in:ACG case reports journal 2023-05, Vol.10 (5), p.e01036-e01036
Main Authors: Nana Sede Mbakop, Raissa, Forlemu, Arnold Nongmoh, Manatsathit, Wuttiporn
Format: Article
Language:English
Subjects:
Case Report
Liver
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Summary:Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder that can manifest with hepatic and muscular dysfunction. MADD can be fatal in neonates; however, late-onset MADD has a milder course and often becomes symptomatic during adulthood. A 20-year-old patient presented to the hepatology clinic with elevated liver enzymes and hepatomegaly. Several investigations including a liver biopsy were unremarkable. Subsequently, the patient developed rhabdomyolysis and nonketotic hypoglycemia raising suspicion for mitochondrial disorders. Plasma acylcarnitine levels performed showed elevated C4-C18:2 consistent with MADD. Although the patient denied a complete genetic evaluation, the patient had complete resolution of symptoms after riboflavin and diet modification.
ISSN:2326-3253
2326-3253
DOI:10.14309/crj.0000000000001036