Article
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
Journal of inherited metabolic disease - 1 Sept 2012
Martinelli Diego, Häberle Johannes, Rubio Vicente, Giunta Cecilia, Hausser Ingrid, Carrozzo Rosalba, Gougeard Nadine, Marco-Marín Clara, Goffredo Bianca M, Meschini Maria Chiara, Bevivino Elsa, Boenzi Sara, Colafati Giovanna Stefania, Brancati Francesco, Baumgartner Matthias R, Dionisi-Vici Carlo
Abstract excerpt
Δ(1)-Pyrroline-5-carboxylate synthetase (P5CS) catalyzes the first two steps of ornithine/proline biosynthesis. P5CS deficiency has been reported in three families, with patients presenting with cutis/joint laxity, cataracts, and neurodevelopmental delay. Only one family exhibited metabolic changes consistent with P5CS deficiency (low proline/ornithine/citrulline/arginine; fasting hyperammonemia). Here we report...
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