MeSH Browser

MeSH Supplementary: Hyperprolinemia type 2
Unique ID: C538385
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538385
Entry Term(s): 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency; 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency; Hyperprolinemia, Type II; Pyrroline Carboxylate Dehydrogenase Deficiency; Pyrroline-5-Carboxylate Dehydrogenase Deficiency; Type 2 hyperprolinemia
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors; 1-Pyrroline-5-Carboxylate Dehydrogenase / *deficiency
Frequency: 25
Note: A metabolic disorder caused by mutations in the 1-Pyrroline-5-Carboxylate Dehydrogenase (P5CDH) gene. Affected individuals experience seizures, intellectual disability, and have elevated levels of amino acids, including PROLINE and GLYCINE, in their urine. OMIM: 239510
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Hyperprolinemia type 2 MeSH Supplementary Concept Data 2024