| Autor: |
Bosch, A. M., Sillevis Smitt, J. H., van Gennip, A. H., Abeling, N. G., Schutgens, R. B., Bakker, H. D., Wijburg, F. A. |
| Přispěvatelé: |
Other departments |
| Jazyk: |
angličtina |
| Rok vydání: |
1998 |
| Zdroj: |
British journal of dermatology, 139(3), 488-491. Wiley-Blackwell |
| ISSN: |
0007-0963 |
| Popis: |
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 |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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