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Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica‐like syndrome
Author(s) -
Bosch,
Sillevis Smitt,
van Y Yves Gennip,
Abeling,
Schutgens,
Bakker,
Wijburg
Publication year - 1998
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.1998.02415.x
Subject(s) - acrodermatitis enteropathica , isoleucine , leucine , inborn error of metabolism , acrodermatitis , medicine , zinc deficiency (plant disorder) , endocrinology , biology , biochemistry , pathology , amino acid , micronutrient , alternative medicine
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.