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Acrodermatitis Enteropathica‐like Dermatosis Associated with Ornithine Transcarbamylase Deficiency
Author(s) -
Pascual José C.,
Matarredona Jaime,
Mut José
Publication year - 2007
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2007.00457.x
Subject(s) - acrodermatitis enteropathica , ornithine transcarbamylase deficiency , urea cycle , hyperammonemia , ornithine transcarbamylase , ornithine carbamoyltransferase , medicine , endocrinology , lethargy , catabolism , metabolic disorder , ornithine , biology , biochemistry , metabolism , zinc deficiency (plant disorder) , amino acid , pathology , micronutrient , arginine
The urea cycle is the major metabolic pathway for excretion of waste nitrogen. Ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. It is a hereditary‐X‐linked disease with over 150 mutations described (1).Ornithine transcarbamylase deficiency causes vomiting, lethargy, hyperventilation, and even death, mainly in the neonatal period (2). Ammonia, an extremely toxic molecule for the organism, is generated during protein catabolism and is accumulated in patients with this deficiency. Part of the treatment consists of a low‐protein diet, to avoid hyperammonemia episodes, which can even have a fatal outcome. Patients can become deficient in several amino acids, either through the low‐protein diet or directly through the primary enzyme deficiency; this in turn can cause an acrodermatitis enteropathica‐like dermatosis.