ArticleACG case reports journal2023
Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly.
Article in ACG case reports journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it, 1 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile.JIMD reports · 2025Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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