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

✍ Scribed by Bosch; Sillevis Smitt; Van Gennip; Abeling; Schutgens; Bakker; Wijburg

• Book ID: 104458813
• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 421 KB
• Volume: 139
• Category: Article
• ISSN: 0007-0963
• DOI: 10.1046/j.1365-2133.1998.02415.x

✦ Synopsis

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.