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.
Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction?
Pavone P;Praticò AD
;Sorge G;Ruggieri M;Rizzo R;Fiumara A
2017-01-01
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.File in questo prodotto:
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Hyperprolinemia Type IA Benign metabolic anomaly or a tigger for brain dysfunction.pdf
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