Acute Porphyria Differential Diagnoses

  • Author: Richard E Frye, MD, PhD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Mar 12, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Richard E Frye, MD, PhD  Assistant Professor, Departments of Pediatrics and Neurology, University of Texas Medical School at Houston

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

Disclosure: Nothing to disclose.

Coauthor(s)

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, and Wilderness Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Association of Blood Banks, American Association of University Professors, American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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; Assistant 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 Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society

Disclosure: Nothing to disclose.

Helen SI Chan, MBBS, FRCP(C), FAAP  Associate Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto Faculty of Medicine, Canada

Helen SI Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

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

Disclosure: Nothing to disclose.

References

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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



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



Czech 0.015/1000



Israel 0.007/1000



Denmark 0.0005/1000



1:20



1:4



2:1



1:1



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
LevelHCPVP
CoproporphyrinSignificantly increasedIncreased
ProtoporphyrinIncreasedSignificantly increased
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