pyridoxal phosphate-responsive seizures
MeSH: C566449ORPHA: 79096
Overview
human disease
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 pyridoxal phosphate-responsive seizures, sourced from HPO and Orphanet clinical annotations.
Status epilepticusEpileptic encephalopathyAbnormality of eye movementSeizureGlobal developmental delayHypertoniaMyoclonusFailure to thriveAbnormality of the amniotic fluidPremature birthMetabolic acidosisHypoglycemiaIncreased circulating lactate concentrationGlobal brain atrophyUnsteady gaitDecreased CSF homovanillic acid concentrationHypoargininemiaAxial hypotoniaEEG with burst suppressionFeeding difficultiesHigh-pitched cryLow APGAR scoreMicrocephalyPyridoxine-responsive sideroblastic anemiaAbnormal circulating glycine concentrationAbnormal circulating threonine concentrationAbnormal circulating histidine concentrationAbnormal circulating arginine concentrationAbnormal circulating tyrosine concentration
Classification & Codes
MeSH Code
C566449Orphanet Code
ORPHA:79096pyridoxal phosphate-responsive seizures
| MeSH | C566449 |
| Orphanet | ORPHA:79096 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO