Hyperprolinaemia — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Riboflavin-responsive hyperprolinemia type I with a PRODH p.Thr466Met variant: Clinical and fibroblast-based evidence.
Kido Jun et al. — Molecular genetics and metabolism (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42150437/
- 2.
Acquired Hyperprolinemia
Patricia E Fitzsimons et al. (1 January 2026)
https://doi.org/10.13140/rg.2.2.33383.92320
- 3.
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
- 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.
Unravelling neuroinflammation-mediated mitochondrial dysfunction in mild cognitive impairment: Insights from targeted metabolomics
R. Trivedi et al. — Brain Organoid and Systems Neuroscience Journal (16 October 2024)
https://doi.org/10.1016/j.bosn.2024.10.001
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
Hyperprolinemia type I (HP1) is a rare autosomal recessive disorder caused by biallelic variants in PRODH, encoding the FAD-dependent enzyme proline dehydrogenase. Although persistent hyperprolinemia has been associated with neurodevelopmental and neuropsychiatric manifestations, no established effective treatment is available. Here, we report convergent clinical and patient-derived fibroblast evidence supporting riboflavin responsiveness in HP1 due to a homozygous PRODH c.1397C>T p.(Thr466Met) variant. The patient exhibited markedly elevated plasma proline (530-625 μmol/L; reference 78-273 μmol/L), which decreased after initiation of a vitamin cocktail including riboflavin (291 and 277 μmol/L at 3 and 8 months) and decreased on riboflavin monotherapy (251 μmol/L; 12 mg/day). Urinary P5C became slightly detectable during riboflavin supplementation and was not detectable after riboflavin discontinuation. In patient-derived fibroblasts, intracellular proline was elevated compared with a control and was reduced by riboflavin therapy (40.32 to 14.85 pmol/200 μL PBS; control 21.65 pmol/200 μL PBS). PRODH mRNA showed a modest upward trend under riboflavin in fibroblasts. Although direct enzymatic activity could not be reliably assessed due to technical limitations, these multi-level findings support riboflavin as a potential cofactor-directed therapy in selected PRODH missense variants and provide a rationale for therapeutic trials with biochemical monitoring.
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.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.