Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome

Br J Dermatol. 1998 Sep;139(3):488-91. doi: 10.1046/j.1365-2133.1998.02415.x.

Abstract

We present two patients with a suspected inborn error of metabolism. A female newborn presented with dysmorphic features and convulsions. Metabolic screening suggested a defect in isoleucine degradation. Within 2 weeks after the introduction of an isoleucine-restricted diet, she developed a severe acrodermatitis enteropathica-like syndrome. The plasma level of isoleucine was low with a normal leucine/isoleucine ratio. The second patient, a female infant deficient in leucine as a result of a leucine-restricted diet, did not develop a dermatosis. Isoleucine is essential for normal growth and differentiation of keratinocytes and enterocytes. Deficiency of isoleucine, and not leucine or an imbalance in the leucine/isoleucine ratio, may result in an acrodermatitis enteropathica-like syndrome.

Publication types

  • Case Reports

MeSH terms

  • Acrodermatitis / etiology*
  • Acrodermatitis / pathology
  • Diarrhea, Infantile / etiology
  • Female
  • Humans
  • Iatrogenic Disease*
  • Infant, Newborn
  • Isoleucine / deficiency*
  • Syndrome

Substances

  • Isoleucine