Hyperprolinemia type 2

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

Also Known As:

Networked: 19 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
2.	Cognitive Dysfunction
3.	Argininosuccinic Aciduria
4.	Propionic Acidemia
5.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Plecko, Barbara: 2 articles (01/2013 - 08/2009)
2.	Delwing, Daniela: 2 articles (04/2006 - 11/2003)
3.	Attri, Savita Verma: 1 article (01/2021)
4.	Bhatia, Vikas: 1 article (01/2021)
5.	Kaur, Rajdeep: 1 article (01/2021)
6.	Paria, Pradip: 1 article (01/2021)
7.	Saini, Arushi Gahlot: 1 article (01/2021)
8.	Suthar, Renu: 1 article (01/2021)
9.	Ayzenberg, Ilya: 1 article (12/2019)
10.	Breuer, Thomas: 1 article (12/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyperprolinemia type 2:

1.	Oxidoreductases (Dehydrogenase)IBA 01/01/2022 - "Hyperprolinemia type II (HPII) is an inborn error of metabolism due to genetic variants in ALDH4A1, leading to a deficiency in Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase. " 09/01/1998 - "We surveyed Delta1-pyrroline 5-carboxylate dehydrogenase genes from four patients with hyperprolinemia type II using RT-PCR amplification, genomic PCR amplification and direct sequencing. " 04/01/2004 - "Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. " 09/01/2007 - "Three of them are hyperprolinemia type 2, antiquitin deficiency, and pyridoxine phosphate oxidase deficiency. " 09/20/1974 - "triangle up(1)-Pyrroline-5-carboxylic acid dehydrogenase activity was measured radioisotopically in normal and type 2 hyperprolinemia fibroblasts. "
2.	Proline (L-Proline)FDA Link 12/29/2019 - "Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. " 09/26/1997 - "Two concentrations of proline were used: a concentration typical of normal human CSF (3 microM) and a concentration typical of CSF in persons with the genetic disorder hyperprolinemia type II (30 microM). " 11/21/2003 - "Hyperprolinemia type II is an autosomal recessive disorder caused by the severe deficiency of delta(1)-pyrroline-5-carboxylate dehydrogenase activity leading to tissue accumulation of proline (Pro). " 09/26/1997 - "However, proline-induced inhibition of glutamate release may contribute to the neuropsychiatric disorders associated with hyperprolinemia type II." 01/01/2021 - "Hyperprolinemia type II (HPII) is a rare autosomal recessive disorder of proline degradation pathway due to deficiency of delta-1-pyrroline-5-carboxylate dehydrogenase. "
3.	AcidsIBA 04/01/1979 - "Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid." 02/01/1977 - "The urinary organic acids were studied in two cases of hyperprolinemia Type II, using various combinations of chromatographic, electrophoretic and mass spectrometric techniques. " 09/20/1974 - "triangle up(1)-Pyrroline-5-carboxylic acid dehydrogenase activity was measured radioisotopically in normal and type 2 hyperprolinemia fibroblasts. " 09/20/1974 - "Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity." 12/01/2004 - "Hyperprolinemia type II (HPII) is an autosomal recessive disorder caused by the severe deficiency of enzyme delta1-pyrroline-5-carboxylic acid dehydrogenase leading to tissue accumulation of proline. "
4.	Vitamin B 6IBA 05/04/2001 - "Vitamin B6 de-activation may contribute to seizures in hyperprolinemia type II, which are so far unexplained, but they may be preventable with long term vitamin B6 supplementation." 01/01/2013 - "In PNPO deficiency, samples have to be collected prior to treatment, while PDE, hyperprolinemia type II and congenital HPP can be diagnosed while on vitamin B6 supplementation. " 05/04/2001 - "We hypothesized that pyridoxal phosphate (vitamin B6 coenzyme) was de-activated by L-Delta(1)-pyrroline-5-carboxylic acid, the major intermediate that accumulates endogenously in hyperprolinemia type II. The proposed interaction has now been investigated in vitro with high resolution 1H nuclear magnetic resonance spectroscopy and mass spectrometry at a pH of 7.4 and temperature of 310 K. "
5.	Biomarkers (Surrogate Marker)IBA 01/01/2022 - "Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II." 05/01/2014 - "We found four patients with increased urinary P5C diagnosed with hyperprolinemia type II, and only one patient had hyperprolinemia type I. All children with hyperprolinemia type II had low normal B6 concentration, and three of the patients had biochemical markers suggesting mitochondrial dysfunction. "
6.	VitaminsIBA 04/03/2006 - "Our findings lend support to a novel therapeutic strategy, based on these vitamins, to the cognitive dysfunction associated with hyperprolinemia type II." 03/15/2023 - "Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). "
7.	1-Pyrroline-5-Carboxylate Dehydrogenase (1 Pyrroline 5 Carboxylate Dehydrogenase)IBA 11/21/2003 - "Hyperprolinemia type II is an autosomal recessive disorder caused by the severe deficiency of delta(1)-pyrroline-5-carboxylate dehydrogenase activity leading to tissue accumulation of proline (Pro). "
8.	Glutamic Acid (Glutamate)FDA Link 09/26/1997 - "However, proline-induced inhibition of glutamate release may contribute to the neuropsychiatric disorders associated with hyperprolinemia type II."
9.	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 03/15/2023 - "Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). "
10.	Pyridoxine (Pyridoxin)FDA LinkGeneric 03/15/2023 - "Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). "