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Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome: ISOLATED ISOLEUCINE DEFICIENCY by Bosch; Sillevis Smitt; Van Gennip; Abeling; Schutgens; Bakker; Wijburg is a Medicine article available to read on EtoBox.

What is Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome: ISOLATED ISOLEUCINE DEFICIENCY about?

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.

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Author

Bosch; Sillevis Smitt; Van Gennip; Abeling; Schutgens; Bakker; Wijburg

Publisher

Oxford University Press (OUP)

Published

1998

Language

EN

Field

Medicine (Health Sciences)