Search results for "Prolidase"
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Sequential and combined treatment of prolidase deficiency leg ulcers
2010
Background The Authors report a case of chronic cutaneous lesions in a patient affected by prolidase deficiency, a rare disorder inherited through an autosomal recessive gene (50 cases reported ). The enzyme prolidase is widely distributed throughout the body and it is important in the recycling of proline and hydroxyproline. Among the clinical presentations, the most striking manifestation is the skin fragility with leg ulceration (see Table Table11) Table 1 Clinical signs of prolidase deficiency The deficiency of the enzyme prolidase is responsible for massive loss of proline in the urine which is estimated to be as high as 3 g/die. The diagnosis is ascertained by iminopeptiduria greater…
Prolidase deficiency in two dermatological patients in western Sicily
2020
Prolidase deficiency is a rare disorder inherited through an autosomal recessive gene. The hallmark of the disorder are iminodipeptiduria, chronic skin ulcers, recurring infections, mental retardation and characteristic facial appearance, although prolidase deficiency can occur with no clinical manifestation. The primary biological function of the enzyme involves the metabolism of collagen degradation products and the recycling of proline for collagen resynthesis. We describe two patients with prolidase deficiency and review the different clinical manifestations suggesting the pathogenetic mechanism through few hypotheses.