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Clinical Chemistry 44: 1892-1896, 1998;
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(Clinical Chemistry. 1998;44:1892-1896.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up

Ulrich Gross1, Shigeru Sassa2, Karl Jacob3, Jean-Charles Deybach4, Yves Nordmann4, Margareta Frank1, and Manfred O. Doss1,a

1 Division of Clinical Biochemistry, Philipps University Hospital, Deutschhausstrasse 171/2, 35037 Marburg, Germany.

2 The Rockefeller University Hospital, New York, NY 10021-6399.

3 Department of Clinical Chemistry, University Hospital Grosshadern, 0-81366 Munich, Germany.

4 Department of Biochemistry, Hôpital Louis Mourier, F-92701 Colombes, France.
a Author for correspondence. Fax 49 6421 288942; e-mail Ulrich.Gross{at}rhein-main.netsurf.de.

5-Aminolevulinic acid dehydratase (ALAD) activity in two patients with compound heterozygous 5-aminolevulinic acid dehydratase deficiency porphyria was studied over the last 20 years. The patients' enzyme activity was <10% from 1977 to 1997. An acute crisis in each patient was successfully treated by infusion of glucose and heme arginate. After this therapy both urinary 5-aminolevulinic acid (ALA) and total porphyrins were diminished to 65% in patient B. In patient H, ALA was decreased to 80%, and total porphyrins were reduced to 15% after treatment with heme arginate and glucose. The patients remained free of symptoms after this therapy. Family studies of patient B showed cross-reactive immunological material (CRIM), in which the maternal mutation is CRIM(+), whereas the paternal mutation is CRIM(-). Incubation of erythrocyte lysates with ALA decreased porphyrin formation, whereas incubation with porphobilinogen produced porphyrin concentrations within reference values in both patients, confirming that ALAD activity is rate-limiting in these cells.


Key Words: ALAD, 5-aminolevulinic acid dehydratase • ALA, 5-aminolevulinic acid • PBG, porphobilinogen • ADP, 5-aminolevulinic acid dehydratase deficiency porphyria • PBGD, porphobilinogen deaminase • CRIM, cross-reactive immunological material.




The following articles in journals at HighWire Press have cited this article:


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M. Maruno, K. Furuyama, R. Akagi, Y. Horie, K. Meguro, L. Garbaczewski, N. Chiorazzi, M. O. Doss, A. Hassoun, R. Mercelis, et al.
Highly heterogeneous nature of {delta}-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria
Blood, May 15, 2001; 97(10): 2972 - 2978.
[Abstract] [Full Text] [PDF]

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M. O. Doss, A. Kuhnel, and U. Gross
ALCOHOL AND PORPHYRIN METABOLISM
Alcohol Alcohol., March 1, 2000; 35(2): 109 - 125.
[Abstract] [Full Text] [PDF]


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Copyright © 1998 by the American Association for Clinical Chemistry.