ALA Dehydratase Deficiency Porphyria Treatment & Management

Author: Smeeta Sinha, MD; Chief Editor: Emmanuel C Besa, MD more...

Updated: Nov 29, 2011

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Medical Care

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.

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 2 antiepileptic medications safe for use in ALAD deficiency porphyria (ADP). Correcting underlying hyponatremia is essential.
Treat tachycardia and hypertension with beta-blockers.
Intravenous hematin should be administered during acute attacks of ALAD deficiency porphyria (ADP) (see Medication).

Surgical Care

Liver transplantation has not been shown to be useful in treating ALAD deficiency porphyria (ADP).^[8]

Hematologist

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.

Proceed to Medication

Contributor Information and Disclosures

Author

Smeeta Sinha, MD Staff Physician, Department of Dermatology, UMDNJ-New Jersey Medical School

Smeeta Sinha, MD is a member of the following medical societies: Alpha Omega Alpha, Phi Beta Kappa, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Pere Gascon, MD, PhD Professor and Director, Division of Medical Oncology, Institute of Hematology and Medical Oncology, IDIBAPS, University of Barcelona Faculty of Medicine, Spain

Pere Gascon, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, New York Academy of Medicine, New York Academy of Sciences, and Sigma Xi

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Mark J Shumate, MD, MPH Assistant Professor, Department of Internal Medicine, Division of Hematology/Oncology, Emory University

Mark J Shumate, MD, MPH is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Thomas H Davis, MD, FACP Associate Professor, Fellowship Program Director, Department of Internal Medicine, Section of Hematology/Oncology, Dartmouth Medical School

Thomas H Davis, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American Association for Cancer Education, American College of Physicians, New Hampshire Medical Society, Phi Beta Kappa, and Society of University Urologists

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Marcel E Conrad, MD Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, and Southwest Oncology Group

Disclosure: No financial interests None None

Rajalaxmi McKenna, MD, FACP Southwest Medical Consultants, SC, Department of Medicine, Good Samaritan Hospital, Advocate Health Systems

Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

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Mercelis R, Hassoun A, Verstraeten L, De Bock R, Martin JJ. Porphyric neuropathy and hereditary delta-aminolevulinic acid dehydratase deficiency in an adult. J Neurol Sci. Jan 1990;95(1):39-47. [Medline].
Sassa S. ALAD porphyria. Semin Liver Dis. 1998;18(1):95-101. [Medline].
Jaffe EK, Stith L. ALAD porphyria is a conformational disease. Am J Hum Genet. Feb 2007;80(2):329-37. [Medline]. [Full Text].
Doss MO, Stauch T, Gross U, et al. The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. J Inherit Metab Dis. 2004;27(4):529-36. [Medline].
Gross U, Sassa S, Jacob K, et al. 5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. Clin Chem. Sep 1998;44(9):1892-6. [Medline]. [Full Text].
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Seth AK, Badminton MN, Mirza D, Russell S, Elias E. Liver transplantation for porphyria: who, when, and how?. Liver Transpl. Sep 2007;13(9):1219-27. [Medline]. [Full Text].
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Inoue R, Akagi R. Co-synthesis of human delta-aminolevulinate dehydratase (ALAD) mutants with the wild-type enzyme in cell-free system-critical importance of conformation on enzyme activity. J Clin Biochem Nutr. Nov 2008;43(3):143-53. [Medline].
Maruno M, Furuyama K, Akagi R, et al. Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. Blood. May 15 2001;97(10):2972-8. [Medline]. [Full Text].

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ALA Dehydratase Deficiency Porphyria Treatment & Management

Medical Care

Surgical Care

Consultations

Diet