Name
ALA-DEHYDRATASE-DEFICIENT PORPHYRIA
DESCRIPTION
DETAIL
RARE AUTOSOMAL RECESSIVE DISEASE D.D. : - LEAD INTOXICATION - HEREDITARY TYROSINEMIA* URINE LEVELS OF ALA & COPROPORPHYRIN - INCREASED * ALA-DEHYDRATASE ACTIVITY IN RBC IS < 5% OF NORMAL
TYPENOTES
MEASUREMENT OF HMB-SYNTHASE IN RBC, OR BETTER, THE DETECTION OF THE FAMILYS HMB-SYNTHASE MUTATION, WILL DIAGNOSE ASYMPTOMATIC FAMILY MEMBERS. THE PRENATAL DIAGNOSIS OF A FETUS AT RISK CAN BE MADE WITH CULTURED AMNIOTIC CELLS OR CHORIONIC VILLI.Medical Care: Treatment of the acute attack of ALA dehydratase deficiency porphyria (ADP) should begin by removing precipitating factors. This includes discontinuing drugs that induce the cytochrome P-450 system, promptly treating infections, and maintaining a high-carbohydrate intake. " Pain control can be safely achieved with parenteral morphine. " Nausea, vomiting, and anxiety may be safely treated with phenothiazines. " Acute attacks can cause respiratory muscle paralysis; airway protection should be frequently assessed and mechanical ventilation implemented, as needed. " Seizure control may be achieved with benzodiazepines; alternatively, gabapentin and vigabatrin are two antiepileptic medications safe for use in ADP. Correcting underlying hyponatremia is essential. " Treat tachycardia and hypertension with beta-blockers. " Intravenous hematin ( Hemin for injection was known previously as hematin). should be administered during acute attacks of ADP. Surgical Care: Liver transplant has not been shown to be useful in treating ADP. Diet: Maintain a diet high in carbohydrates, consuming at least 300 g of glucose daily. Glucose inhibits ALA synthetase thus decreasing ALA levels.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
COMPLETE BLOOD COUNT