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case_report·gastroenterology, internal medicine, pediatrics, endocrinology, nutrition·PMC10166334

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

ACG Case Reports Journal · 3 authors, 3 centres

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AGENT 01 · STRUCTURED SUMMARY

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TL;DR

Workup for viral hepatitis, autoimmune hepatitis, Wilson disease, celiac disease, hemochromatosis, and other etiologies was negative.

Full summary

488 CHARS

Workup for viral hepatitis, autoimmune hepatitis, Wilson disease, celiac disease, hemochromatosis, and other etiologies was negative. An acylcarnitine profile showed moderate elevations of short-chain, medium-chain, and long-chain acylcarnitines (C4 to C18:2), and genetic testing identified 2 heterozygous ETFDH mutations [c.560 C>T, p.(A187V) and c.1669 G>A, p.(E557K)]. The patient did not pursue additional genetic testing, limiting definitive confirmation of compound heterozygosity.

STUDY TYPE

case_report

SPECIALTY

gastroenterology

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AI pipeline

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100% · A

ORIGINAL PAPER

PMC10166334

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

ACG Case Reports Journal

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ABSTRACT

ABSTRACT 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. KEYWORDS: MADD, liver disease, hypoglycemia, riboflavin, acylcarnitine

CITATION EXPORT

Raissa Nana Sede Mbakop, Arnold Nongmoh Forlemu, Wuttiporn Manatsathit. Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly. ACG Case Reports Journal. (2023). https://doi.org/10.14309/crj.0000000000001036

AUTHORS

3 · 3 CENTRES

Raissa Nana Sede Mbakop, Arnold Nongmoh Forlemu, Wuttiporn Manatsathit

1Division of Gastroenterology, Department of Internal Medicine, Piedmont Athens Regional, Athens, GA
2Division of Gastroenterology and Hepatology, Department of Internal Medicine, The Brooklyn Hospital Center, Brooklyn, NY
3Division of Gastroenterology and Hepatology, Department of Internal Medicine, Omaha, NE