ALA Dehydratase Deficiency Porphyria Differential Diagnoses

  • Author: Smeeta Sinha, MD; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Nov 29, 2011
 
 

Differential Diagnoses

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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

  1. Bonkovsky HL. Neurovisceral porphyrias: what a hematologist needs to know. Hematology Am Soc Hematol Educ Program. 2005;24-30. [Medline]. [Full Text].

  2. 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].

  3. Sassa S. ALAD porphyria. Semin Liver Dis. 1998;18(1):95-101. [Medline].

  4. Jaffe EK, Stith L. ALAD porphyria is a conformational disease. Am J Hum Genet. Feb 2007;80(2):329-37. [Medline]. [Full Text].

  5. 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].

  6. 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].

  7. Akagi R, Kato N, Inoue R, et al. delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations. Mol Genet Metab. Apr 2006;87(4):329-36. [Medline].

  8. 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].

  9. Bissell DM. Treatment of acute hepatic porphyria with hematin. J Hepatol. Feb 1988;6(1):1-7. [Medline].

  10. Gorchein A. Drug treatment in acute porphyria. Br J Clin Pharmacol. Nov 1997;44(5):427-34. [Medline]. [Full Text].

  11. Akagi R, Yasui Y, Harper P, Sassa S. A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity. Br J Haematol. Sep 1999;106(4):931-7. [Medline].

  12. de Verneuil H, Doss M, Brusco N, Beaumont C, Nordmann Y. Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme. Hum Genet. 1985;69(2):174-7. [Medline].

  13. 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].

  14. 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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