Hyperprolinemia type I (HPI) is a rare and inherited autosomal recessive disorder caused by proline oxidase deficiency. Hyperprolinemia type 1 is biochemically defined as high plasma proline levels without urinary Δ-1-pyrroline-5-carboxylate excretion. Hyperprolinemia type 1 has been considered a benign metabolic disorder, but a relationship with neurological disorders has recently been suggested.
Titolo: | Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction? | |
Autori interni: | ||
Data di pubblicazione: | 2017 | |
Rivista: | ||
Abstract: | Hyperprolinemia type I (HPI) is a rare and inherited autosomal recessive disorder caused by proline oxidase deficiency. Hyperprolinemia type 1 is biochemically defined as high plasma proline levels without urinary Δ-1-pyrroline-5-carboxylate excretion. Hyperprolinemia type 1 has been considered a benign metabolic disorder, but a relationship with neurological disorders has recently been suggested. | |
Handle: | http://hdl.handle.net/20.500.11769/363403 | |
Appare nelle tipologie: | 1.1 Articolo in rivista |
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Hyperprolinemia Type IA Benign metabolic anomaly or a tigger for brain dysfunction.pdf | Versione Editoriale (PDF) | Open Access Visualizza/Apri |
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