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acute hepatic porphyria
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
General
porphyria
Database Correlations
OMIM 612740
References
OMIM :accession 612740