ReviewHealth science reports2026
Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases.
Review in Health science reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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Authors and funding
5 authors.
Funding
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Abstract
Background and Aim: Maple Syrup Urine Disease (MSUD) is a metabolic disorder affecting branched-chain amino acid metabolism. While neurological symptoms are well-characterized, cutaneous manifestations such as acrodermatitis dysmetabolica (AD) caused by isoleucine deficiency remain underrecognized. This systematic review aimed to summarize reported cases of AD or acrodermatitis enteropathica-like eruptions in patients with MSUD. Methods: A systematic search of PubMed, Scopus, and Web of Science was conducted through June 2026. Case reports and studies describing dermatologic findings in MSUD patients with confirmed isoleucine deficiency were included. Results: 19 studies reporting 20 patients were investigated. Most cases involved infants presenting with erythematous, scaly, or erosive lesions primarily in periorificial and acral regions. All patients exhibited low isoleucine levels with normal zinc status. Isoleucine supplementation resulted in clinical improvement in nearly all cases. Conclusion: Acrodermatitis dysmetabolica is a treatable dermatologic complication of MSUD, typically arising from dietary isoleucine deficiency. Early diagnosis and monitoring of amino acid levels are critical for effective management.
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