acute hepatic porphyria
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Epidemiology
- rare
- confirmed by genetic analysis in 5 patients
Genetics
- autosomal recessive
- associated with defects in ALAD
Clinical manifestations
- presentation in presented in neonatal period or infancy
- recurrent attacks of pain, vomiting, hyponatremia
- symptoms of polyneuropathy compromising motor functions, including respiration
Laboratory
- urine delta-aminolevulinic acid high
- urine porphyrins high
- erythrocyte aminolevulinic acid 1% of normal
- serum sodium: hyponatremia during attacks