Hyperprolinaemia — Research Summary
Printed from RareWays (rareways.com.au) on 12 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Acquired Hyperprolinemia
Patricia E Fitzsimons et al. (1 January 2026)
https://doi.org/10.13140/rg.2.2.33383.92320
- 2.
Nutritional and Biochemical Aspects of Vitamin B6: Implications for Epilepsy and Health"
M. Tejasri et al. — Frontiers in Cell Science (25 November 2025)
https://doi.org/10.2174/0127726215397477251115033606
- 3.
Severe Hypoglycemia and Pituitary Stalk Interruption Syndrome in a 5-Year-Old Boy with Coexistent Hyperprolinaemia: A Case Report and Literature Review
Aikaterini Theodosiadi et al. — Endocrines (6 May 2025)
https://doi.org/10.3390/endocrines6020020
- 4.
Neurobiology of L-proline: From molecules to behavior.
Carvalho Gustavo Almeida et al. — Neuroscience (5 March 2025)
https://pubmed.ncbi.nlm.nih.gov/39826672/
- 5.
Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and
AlQurashi Faisal O et al. — Frontiers in pediatrics (1 January 2025)
https://pubmed.ncbi.nlm.nih.gov/41602883/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Hyperprolinaemia
Hyperprolinaemia is a rare metabolic disorder in which the amino acid proline accumulates in the blood due to an enzyme deficiency. It occurs in two forms: type I (proline oxidase deficiency, usually benign) and type II (P5C dehydrogenase deficiency, associated with neurological symptoms and seizures). Research is ongoing into the neurological implications and long-term outcomes of both types.
Most Recent Research
Common Questions
What is Hyperprolinaemia?
Hyperprolinaemia is a rare metabolic disorder in which the amino acid proline accumulates in the blood due to an enzyme deficiency. It occurs in two forms: type I (proline oxidase deficiency, usually benign) and type II (P5C dehydrogenase deficiency, associated with neurological symptoms and seizures). Research is ongoing into the neurological implications and long-term outcomes of both types.
How many clinical trials are available for Hyperprolinaemia?
No clinical trials are currently indexed for Hyperprolinaemia. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Hyperprolinaemia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.