acute intermittent porphyria

ICD-10: E80.2MeSH: D017118ORPHA: 79276

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 acute intermittent porphyria, sourced from HPO and Orphanet clinical annotations.

Abdominal painElevated urinary delta-aminolevulinic acidPorphyrinuriaIncreased urinary porphobilinogenAbnormal circulating enzyme concentration or activityRenal insufficiencyHypertensionMental deteriorationTachycardiaNausea and vomitingConstipationBack painCranial nerve paralysisLimb painPeripheral neuropathyNeck painRestlessnessDepressionHallucinationsAnxietySeizureExcessive daytime somnolenceConfusionHepatocellular carcinomaFeverDiarrheaRespiratory insufficiencyRespiratory paralysisMemory impairmentDistal muscle weaknessIleusHyponatremiaAbdominal distentionSomatic sensory dysfunctionWeakness of muscles of respirationMotor axonal neuropathyPseudobulbar paralysisMotor polyneuropathyProximal lower limb muscle weaknessProximal upper limb muscle weaknessParanoiaDark urineInsomniaBrain imaging abnormalityUrinary retentionUrinary incontinenceHyperhidrosisComaTremorDysuria

Classification & Codes

ICD-10 Code

E80.2

MeSH Code

D017118

Orphanet Code

ORPHA:79276
acute intermittent porphyria
ICD-10E80.2
MeSHD017118
OrphanetORPHA:79276
Treatments0 drug(s)
Symptoms on record50 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO