Health Science Reports· 2026Q2· Review
Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases
- 0citations
- Q2SCImago
- 2026year
Short summary
A systematic review of 20 MSUD patients found acrodermatitis dysmetabolica (AD), characterized by erythematous, scaly, or erosive lesions, is a treatable skin manifestation of isoleucine deficiency.
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Key points
- Acrodermatitis dysmetabolica (AD) is a skin manifestation linked to isoleucine deficiency in Maple Syrup Urine Disease (MSUD).
- AD presents as erythematous, scaly, or erosive lesions, primarily in periorificial and acral regions.
- All reviewed patients had low isoleucine levels but normal zinc status.
- Isoleucine supplementation effectively treated the skin lesions in nearly all cases.
AI-generated from the title and abstract; the full text is not read.
Abstract
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.
The authors' abstract, as published at the source. Health Science Reports, 2026 · DOI ↗
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Field: Clinical Biochemistry
Clinical BiochemistryBiochemistry, Genetics and Molecular Biology