Biomaterial Database

Acrodermatitis enteropathica-like dermatosis associated with ornithine transcarbamylase deficiency. 2007

José C Pascual, and Jaime Matarredona, and José Mut

Department of Dermatology, Hospital General Universitario de Elche, Elche, Spain. pascual_josram@gva.es

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. Ornithine transcarbamylase deficiency causes vomiting, lethargy, hyperventilation, and even death, mainly in the neonatal period. 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.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000169	Acrodermatitis	Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome.	Gianotti-Crosti Syndrome,Infantile Papular Acrodermatitis,Acrodermatitis Papulosa Infantum,Acropapulo-Vesicular Syndrome,Erythemato-Vesiculo-Papulous Eruptive Syndrome,Papular Acrodermatitis of Childhood,Papulovesicular Acrolocated Syndrome,Acrodermatitides,Acrodermatitis Papulosa Infantums,Acropapulo Vesicular Syndrome,Acropapulo-Vesicular Syndromes,Childhood Papular Acrodermatitides,Childhood Papular Acrodermatitis,Erythemato Vesiculo Papulous Eruptive Syndrome,Erythemato-Vesiculo-Papulous Eruptive Syndromes,Gianotti Crosti Syndrome,Infantile Papular Acrodermatitides,Papular Acrodermatitides, Infantile,Papular Acrodermatitis, Infantile,Papulovesicular Acrolocated Syndromes,Syndrome, Acropapulo-Vesicular,Syndrome, Erythemato-Vesiculo-Papulous Eruptive,Syndrome, Gianotti-Crosti,Syndromes, Acropapulo-Vesicular,Syndromes, Erythemato-Vesiculo-Papulous Eruptive,Syndromes, Papulovesicular Acrolocated
D020163	Ornithine Carbamoyltransferase Deficiency Disease	An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)	OTC Deficiency,Ornithine Transcarbamylase Deficiency,Ornithine Transcarbamylase Deficiency Disease,Deficiency Disease, Ornithine Carbamoyltransferase,Deficiency Disease, Ornithine Transcarbamylase,Ornithine Carbamoyltransferase Deficiency,Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To,Deficiencies, OTC,Deficiencies, Ornithine Transcarbamylase,Deficiency, OTC,Deficiency, Ornithine Transcarbamylase,OTC Deficiencies,Ornithine Transcarbamylase Deficiencies