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Acute Porphyria Differential Diagnoses

  • Author: Richard E Frye, MD, PhD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
Updated: Apr 07, 2016
Contributor Information and Disclosures

Richard E Frye, MD, PhD Associate Professor, Department of Pediatrics, University of Arkansas for Medical Sciences

Richard E Frye, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, International Neuropsychological Society, American Academy of Pediatrics

Disclosure: Nothing to disclose.


Thomas G DeLoughery, MD Professor of Medicine, Pathology, and Pediatrics, Divisions of Hematology/Oncology and Laboratory Medicine, Associate Director, Department of Transfusion Medicine, Division of Clinical Pathology, Oregon Health and Science University School of Medicine

Thomas G DeLoughery, MD is a member of the following medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American College of Physicians, American Society of Hematology, International Society on Thrombosis and Haemostasis, Wilderness Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

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Heme production pathway. Heme production begins in the mitochondria, proceeds into the cytoplasm, and resumes in the mitochondria for the final steps. Figure outlines the enzymes and intermediates involved in the porphyrias. Names of enzymes are presented in the boxes; names of the intermediates, outside the boxes. Multiple arrows leading to a box demonstrate that multiple intermediates are required as substrates for the enzyme to produce 1 product.
Table 1. Known Chromosomal Location of Enzymes Involved in Porphyria and Inheritance Patterns
Type of PorphyriaDeficient EnzymeLocationInheritance PatternBand 
ALAD deficiencyALADCytosolAutosomal recessive9q34 
AIPPBG deaminaseCytosolAutosomal dominant11q23 
HCPCoproporphyrinogen oxidaseMitochondrialAutosomal dominant3q12 
VPProtoporphyrinogen oxidaseMitochondrialAutosomal dominant1q22-23 
Table 2. Frequencies of Porphyria
Type of PorphyriaAge of OnsetIncidenceMale-to-Female Ratio
ALAD deficiencyMostly adolescence to young adulthood, but variable (2-63 y)6 cases total6:0
AIPAfter puberty (third decade)General 0.01/1000

Sweden 1/1000

Finland 2/1000

France 0.3/1000

HCPPredominantly adulthood (youngest patient aged 4 y)Japan 0.015/1000

Czech 0.015/1000

Israel 0.007/1000

Denmark 0.0005/1000





VPHeterozygous mutation: after puberty (fourth decade) Homozygous mutation (rare): childhoodSouth Africa 0.34/10001:1
Table 3. Quantitative Urine Porphyrin Levels
LevelALAD DeficiencyAcute Intermittent Porphyria (AIP)Congenital Erythropoietic Porphyria (CEP) and Porphyria Cutanea Tarda (PCT)HCP and VP
ALASignificantly increasedSignificantly increasedNormalSignificantly increased
PBGIncreasedSignificantly increasedNormalSignificantly increased
UroporphyrinNormalIncreasedSignificantly increasedIncreased
CoproporphyrinSignificantly increasedIncreasedIncreasedSignificantly increased
Table 4. Quantitative Stool Porphyrin levels
CoproporphyrinSignificantly increasedIncreased
ProtoporphyrinIncreasedSignificantly increased
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