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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.

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ICD E72.59

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.

This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.

12
Articles
1
Trials
Data refreshed
19 October 2026
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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?

RareWays currently indexes 1 clinical trial for Hyperprolinaemia. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.

Where does the research data for Hyperprolinaemia come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.

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