ALA Dehydratase Deficiency Porphyria Treatment & Management

Updated: Mar 25, 2021
  • Author: Smeeta Sinha, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Treatment

Approach Considerations

Treatment of the acute attack of ALAD deficiency porphyria (ADP) should begin by removing the precipitating factors. This includes discontinuing drugs that induce the cytochrome P-450 system, promptly treating infections, and maintaining a high-carbohydrate intake.

Prompt treatment with intravenous hemin is needed to avoid the development of potentially irreversible neurologic sequelae. [5, 9] Hemin (Panhematin) is an orphan drug that has been approved by the US Food and Drug Administration (FDA) for heme therapy. If hemin cannot be obtained quickly enough, glucose (administered both orally and intravenously) may be used; it has an effect similar to that of hemin. [11]

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.

Liver transplantation has not been shown to be useful in treating ADP. [16, 13]

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Diet

Patients with ALAD deficiency porphyria (ADP) should maintain a diet high in carbohydrates, consuming at least 300 g of glucose daily. Glucose inhibits ALA synthetase, thus decreasing ALA levels.

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Long-Term Monitoring

The mainstay of ALAD deficiency porphyria (ADP) outpatient therapy is to prevent future acute attacks. Patients should be counseled to avoid the following:

  • Exposure to inducing medications (ie, drugs that induce the cytochrome P-450 system, exogenous estrogen and progesteronal agents)
  • Exposure to other exogenous inducing substances, such as styrene, lead, trichloroethylene, and bromobenzene
  • Fasting 
  • Smoking, which is an inducer of the cytochrome P-450 system and may increase ADP attacks
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