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ENHyperprolinemia
Alias:
Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Pyrroline Carboxylate Dehydrogenase Deficiency
Proline Dehydrogenase Deficiency
Proline Oxidase Deficiency
Hyperprolinemia Type 2
Prolinemia
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Hyperprolinemia, also known as pyrroline-5-carboxylate dehydrogenase deficiency, is related to hyperprolinemia, type i and hyperprolinemia, type ii, and has symptoms including seizures An important gene associated with Hyperprolinemia is PRODH (Proline Dehydrogenase 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include liver and cortex, and related phenotype is Increased shRNA abundance (Z-score > 2).
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MALACARDS
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