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Acrodermatitis dysmetabolica in an infant with maple syrup urine disease

K Flores1, R Chikowski1, D S Morrell1

  • 1Department of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Clinical and Experimental Dermatology
|June 24, 2016
PubMed

Insights

Acrodermatitis dysmetabolica (AD), similar to acrodermatitis enteropathica (AE), can arise from metabolic disorders like maple syrup urine disease (MSUD). This case highlights isoleucine deficiency as a cause of AD in an MSUD patient.

Area of Science:

  • Metabolic disorders
  • Dermatology
  • Genetics

Background:

  • Acrodermatitis dysmetabolica (AD) is a rare condition clinically resembling acrodermatitis enteropathica (AE).
  • Both AD and AE present with a triad of periorificial and acral dermatitis, diarrhea, and alopecia.
  • While AE stems from zinc deficiency, AD is linked to various metabolic disorders.

Purpose of the Study:

  • To describe a case of acrodermatitis dysmetabolica (AD) secondary to isoleucine deficiency in an infant with maple syrup urine disease (MSUD).
  • To underscore the importance of precise branched-chain amino acid (BCAA) management in treating MSUD.

Main Methods:

  • Clinical observation of an infant diagnosed with MSUD.
  • Monitoring of BCAA levels and dermatological symptoms.
  • Therapeutic adjustment of isoleucine dosage.

Main Results:

  • The infant developed symptoms consistent with AE/AD following reduced BCAA formula intake.
  • Low isoleucine levels were detected, with normal zinc levels.
  • Increased isoleucine dosage led to the resolution of the dermatitis.

Conclusions:

  • Isoleucine deficiency can precipitate acrodermatitis dysmetabolica (AD) in patients with maple syrup urine disease (MSUD).
  • Careful balancing of BCAA levels is crucial during MSUD treatment to prevent deficiencies that can lead to AD.
  • This case expands the understanding of metabolic etiologies for AD.

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