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Pathway Description
Hyperprolinemia Type II
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Hyperprolinemia Type II (HPII), also known as 1-pyrroline-5-carboxylate dehydrogenase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the arginine and proline metabolism pathway. It is caused by a mutation in the ALDH4A1 gene (also called the P5CDH gene) that encodes the mitochondrial enzyme delta-1-pyrroline-5-carboxylate dehydrogenase. This enzyme is responsible for catalyzing the dehydrogenation of 1-pyrroline-5-carboxylic acid or L-glutamic gamma-semialdehyde into L-glutamic acid. If mutated, allows L-proline, 4-hydroxyproline and D-proline, compounds further upstream from these reactions, to accumulate. HPII is characterized by an accumulation of proline in the blood. Symptoms include hydroxyprolinuria and hyperglycinuria, and can include seizures and some amount of mental retardation. However, the disorder varies in severity and these symptoms may not be present in all individuals. There are no currently known treatments for HPII, and a reduced proline diet has not been shown to reduce symptoms. There are no current estimates for the frequency of this disorder.
References
Hyperprolinemia Type II References
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Arginine and Proline Metabolism References
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This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000360
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