hyperprolinemia type 2
ORPHA: 79101
Overview
hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hyperprolinemia type 2, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorIntellectual disabilitySeizureGlobal developmental delayAbnormal cerebrospinal fluid morphologyHydroxyprolinuriaProlinuriaHyperprolinemiaAbnormal circulating enzyme concentration or activityIncreased urine alpha-ketoglutarate concentrationDelayed speech and language developmentHyperglycinemiaGeneralized-onset seizureUnsteady gaitSleep disturbanceIncreased CSF protein concentrationHyperalaninemiaMuscle spasmExercise intoleranceReduced circulating vitamin B6 circulatingEEG with generalized sharp slow wavesChronic fatigueRenal insufficiencyAbnormality of eye movementVertical supranuclear gaze palsyOphthalmoparesisDepressionAggressive behaviorAutistic behaviorShort attention spanHallucinationsAnxietyAreflexiaConfusionEncephalopathyPsychotic mentationDiarrheaDysphagiaAbdominal painStatus epilepticusFebrile seizure (within the age range of 3 months to 6 years)Increased CSF lactateDistal sensory impairmentMyalgiaSpeech articulation difficultiesPeripheral neuropathyAtonic seizureEarly onset absence seizuresMild global developmental delayFeeding difficultiesDysesthesia
Classification & Codes
Orphanet Code
ORPHA:79101hyperprolinemia type 2
| Orphanet | ORPHA:79101 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO