ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2020
Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.BMC medical genomics · 2025Review
- The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.Molecular genetics and metabolism reports · 2024Article
- Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia.Journal of medical cases · 2022Article
- Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report.Translational pediatrics · 2021Article
- Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.Frontiers in pediatrics · 2021Article
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, progression to cirrhosis and acute liver failure (ALF) has been reported in two previous case reports. Here, we report a 22-year-old man, who suffered from late-onset MADD and died from cirrhosis and ALF. In the span of three months repeated clinical examinations, blood tests, and diagnostic imaging as well as liver biopsy revealed rapid progression of hepatopathy from steatosis to decompensated cirrhosis with portal hypertension. Routine studies for recognized etiologies found no evident cause besides MADD. This case report supports the findings of the two previous case reports and adds further evidence to the suggestion that late-onset MADD should be considered a rare cause of cirrhosis and ALF.
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