hyperprolinemia type 1
Findings
No curated finding names hyperprolinemia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).
Definition from the Mondo Disease Ontology (MONDO:0009400), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- HyperprolinemiaHPOHP:0008358
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 13 of 19 reported patients
- Occasional (5% to 29% of cases)
- HyperglycinuriaHPOHP:0003108
- 2 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 14 of 23 reported patients
- NephropathyHPOHP:0000112
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRODHHGNC:9453
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: hyperprolinemia type 1
- Also called
- hyperprolinemia caused by mutation in PRODHPRODH hyperprolinemiaproline oxidase deficiency