Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias Differential Diagnoses

  • Author: Norman C Reynolds Jr, MD; Chief Editor: Stephen A Berman, MD, PhD, MBA   more...
 
Updated: Feb 3, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Norman C Reynolds Jr, MD  Neurologist, Veterans Affairs Medical Center of Milwaukee; Clinical Professor, Medical College of Wisconsin

Norman C Reynolds Jr, MD is a member of the following medical societies: American Academy of Neurology, Association of Military Surgeons of the US, Movement Disorders Society, Sigma Xi, and Society for Neuroscience

Disclosure: Nothing to disclose.

Specialty Editor Board

Ann M Neumeyer, MD  Medical Director, Lurie Family Autism Center/LADDERS; Assistant Professor of Neurology, Harvard Medical School; Child Neurologist, Massachusetts General Hospital

Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, and Massachusetts Medical Society

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

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Stephen A Berman, MD, PhD, MBA  Professor of Neurology, University of Central Florida College of Medicine

Stephen A Berman, MD, PhD, MBA is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

References

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  2. Brenner DA, Bloomer JR. The enzymatic defect in variegate porphyria. Studies with human cultured skin fibroblasts. N Engl J Med. Apr 3 1980;302(14):765-9. [Medline].

  3. Morais P, Mota A, Baudrier T, Trigo F, Oliveira JP, Cerqueira R, et al. Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene. Eur J Dermatol. Jul-Aug 2011;21(4):479-83. [Medline].

  4. To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, et al. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. Aug 11 2011;118(6):1443-51. [Medline].

  5. Wang Y, Langer NB, Shaw GC, Yang G, Li L, Kaplan J, et al. Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria. Exp Hematol. Jul 2011;39(7):784-94. [Medline]. [Full Text].

  6. Kohlschütter A, Santer R, Lukacs Z, Altenburg C, Kemper MJ, Rüther K. A Child With Night Blindness: Preventing Serious Symptoms of Refsum Disease. J Child Neurol. Dec 7 2011;[Medline].

  7. Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol. Nov 2006;135(3):281-92. [Medline].

  8. Felsher BF, Norris ME, Shih JC. Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. N Engl J Med. Nov 16 1978;299(20):1095-8. [Medline].

  9. Reynolds NC Jr, Miska RM. Safety of anticonvulsants in hepatic porphyrias. Neurology. Apr 1981;31(4):480-4. [Medline].

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  11. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. Mar 15 2005;142(6):439-50. [Medline].

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  17. Kappas A, Sassa S, Galbraith RA, et al. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, ed. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill; 1995:2103-2159.

  18. King PH, Bragdon AC. MRI reveals multiple reversible cerebral lesions in an attack of acute intermittent porphyria. Neurology. Aug 1991;41(8):1300-2. [Medline].

  19. Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, ed. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill; 1995:2287-2324.

  20. Meyer UA, Schuurmans MM, Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Semin Liver Dis. 1998;18(1):43-52. [Medline].

  21. Redeker AG. Phlebotomy treatment of porphyria cutanea tarda: is it really effective?. Calif Med. Nov 1969;111(5):404-6. [Medline].

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  23. Verhoeven NM, Wanders RJ, Poll-The BT, et al. The metabolism of phytanic acid and pristanic acid in man: a review. J Inherit Metab Dis. Oct 1998;21(7):697-728. [Medline].

 
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Tetrapyrrole molecules are large-ringed structures developed from 4 pyrrole groups and used in energy metabolism in both plants and animals.
Three characteristic substrate molecules of the heme porphyrin pathway.
 
 
 
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