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ALA Dehydratase Deficiency Porphyria Workup

  • Author: Smeeta Sinha, MD; Chief Editor: Emmanuel C Besa, MD  more...
 
Updated: Mar 26, 2015
 

Laboratory Studies

Findings on laboratory studies in patients with delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria (ADP) are as follows:

  • Urine ALA levels are increased and correlate with the clinical severity
  • Erythrocyte zinc protoporphyrin levels are markedly elevated
  • Urine coproporphyrin III and protoporphyrin IX levels are also elevated
  • Erythrocyte ALAD activity is typically decreased by greater than 80% of normal
  • Despite the fact that this is a disease of hemoglobin synthesis, the complete blood cell count (CBC) remains within the reference range
  • Urine porphobilinogen (PBG) levels are within the reference range; this distinguishes ALAD deficiency porphyria (ADP) from acute intermittent porphyria, which is characterized by increased urinary excretion of PBG
  • Fecal porphyrin levels are normal
  • Blood lead levels should be tested to rule out acquired ALAD deficiency
  • Hyponatremia may be noted during acute attacks of ALAD deficiency porphyria (ADP) and is attributed to infusion of hypotonic dextrose-containing fluids or to the syndrome of inappropriate secretion of antidiuretic hormone (SIADH)
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Other Tests

DNA analysis to identify mutations in the ALAD gene is the most specific test for ALAD deficiency porphyria (ADP).

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Contributor Information and Disclosures
Author

Smeeta Sinha, MD Resident Physician, Department of Dermatology, Rutgers New Jersey Medical School

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

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

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

Disclosure: Nothing to disclose.

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, Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, SWOG

Disclosure: Partner received none from No financial interests for none.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, 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 Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

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

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, Society of University Urologists

Disclosure: Nothing to disclose.

Acknowledgements

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

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

Disclosure: Nothing to disclose.

References
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