hyperprolinemia type 2
Findings
No curated finding names hyperprolinemia type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0009401), read 2026-09-29. CC BY 4.0.
Features
53 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.
- Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activityHPOHP:6000695
- 5 of 5 reported patients
- Abnormal cerebrospinal fluid morphologyHPOHP:0002921
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HydroxyprolinuriaHPOHP:0003080
- Very frequent (80% to 99% of cases)
- HyperprolinemiaHPOHP:0008358
- Very frequent (80% to 99% of cases)
- Increased urine alpha-ketoglutarate concentrationHPOHP:0012402
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- ProlinuriaHPOHP:0003137
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Chronic fatigueHPOHP:0012432
- Frequent (30% to 79% of cases)
Show the remaining 41
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- EEG with generalized sharp slow wavesHPOHP:0011199
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Generalized-onset seizureHPOHP:0002197
- Frequent (30% to 79% of cases)
- HyperalaninemiaHPOHP:0003348
- Frequent (30% to 79% of cases)
- HyperglycinemiaHPOHP:0002154
- 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.
- ALDH4A1HGNC:406
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
6 names
Resolves to: hyperprolinemia type 2
- Also called
- 1-pyrroline-5-carboxylate dehydrogenase activity diseaseALDH4A1 hyperprolinemiadelta-1-pyrroline-5-carboxylate dehydrogenase deficiencydelta1-pyrroline-5-carboxylate dehydrogenase deficiencydisorder of 1-pyrroline-5-carboxylate dehydrogenase activityhyperprolinemia caused by mutation in ALDH4A1