Page 934 - Williams Hematology ( PDFDrive )

908 Part VI: The Erythrocyte Chapter 58: The Porphyrias 909

Third, interferon and ribavirin commonly cause anemia, which usually 20. Tsai SF, Bishop DF, Desnick RJ: Human uroporphyrinogen III synthase: Molecular
precludes phlebotomy for PCT. Hydroxychloroquine may be an option cloning, nucleotide sequence, and expression of a full-length cDNA. Proc Natl Acad
Sci U S A 85(19):7049, 1988.
during treatment with interferon and ribavirin, but initial worsening of 21. Bishop DF: Two different genes encode delta-aminolevulinate synthase in humans:
liver function tests, even with a low-dose regimen, may cause concern. Nucleotide sequences of cDNAs for the housekeeping and erythroid genes. Nucleic
It is reasonable to consider continuing low-dose hydroxychloroquine Acids Res 18(23):7187, 1990.
after PCT is in remission to avoid a reoccurrence of PCT during treat- 22. Cox TC, Bawden MJ, Martin A, et al: Human erythroid 5-aminolevulinate synthase:
Promoter analysis and identification of an iron-responsive element in the mRNA.
ment of hepatitis C, but there is little experience with this approach. EMBO J 10(7):1891, 1991.
Reports that PCT patients are often resistant to treatment of hepatitis 23. Aziz N, Munro HN: Iron regulates ferritin mRNA translation through a segment of its
C, 314,315 contrast with reports of successful treatment, and prospective 5′ untranslated region. Proc Natl Acad Sci U S A 84(23):8478, 1987.
studies are needed. Studies are needed with newer and more effective 24. Lowry JA, Mackay JP: GATA-1: One protein, many partners. Int J Biochem Cell Biol
38(1):6, 2006.
agents for hepatitis C as these become available. 25. Casey JL, Di Jeso B, Rao K, et al: The promoter region of the human transferrin recep-
Treatment of PCT associated with end-stage renal disease is more tor gene. Ann N Y Acad Sci 526:54, 1988.
difficult, as phlebotomy is often contraindicated by anemia. Erythro- 26. Melefors O, Goossen B, Johansson HE, et al: Translational control of 5-aminolevuli-
nate synthase mRNA by iron-responsive elements in erythroid cells. J Biol Chem
poietin administration can correct anemia, mobilize iron, and support 268(8):5974, 1993.
phlebotomy in many cases. 290,316,317 High-flux hemodialysis may remove 27. Podvinec M, Handschin C, Looser R, et al: Identification of the xenosensors regulating
human 5-aminolevulinate synthase. Proc Natl Acad Sci U S A 101(24):9127, 2004.
318
porphyrins from plasma and provide some benefit. PCT is not a con- 28. Elferink CJ, Srivastava G, Maguire DJ, et al: A unique gene for 5-aminolevulinate syn-
traindication to renal transplantation, which is likely to lead to remis- thase in chickens. Evidence for expression of an identical messenger RNA in hepatic
319
sion partly because of resumption of endogenous erythropoietin and erythroid tissues. J Biol Chem 262(9):3988, 1987.
production. The level of plasma porphyrins are often especially high in 29. Kitchin KT: Regulation of rat hepatic delta-aminolevulinic acid synthetase and heme
these patients, and should be assessed prior to surgery, because there oxygenase activities: Evidence for control by heme and against mediation by prosthetic
iron. Int J Biochem 15(4):479, 1983.
may be some risk of skin and peritoneal burns from exposure to oper- 30. Handschin C, Lin J, Rhee J, et al: Nutritional regulation of hepatic heme biosynthesis
ating room lights. and porphyria through PGC-1alpha. Cell 122(4):505, 2005.
Management of HEP emphasizes avoiding sunlight, as in CEP. Oral 31. Virbasius JV, Scarpulla RC: Activation of the human mitochondrial transcription fac-
tor A gene by nuclear respiratory factors: A potential regulatory link between nuclear
charcoal was helpful in a severe case associated with dyserythropoiesis. and mitochondrial gene expression in organelle biogenesis. Proc Natl Acad Sci U S A
98
Phlebotomy has shown little or no benefit. Retrovirus-mediated gene 91(4):1309, 1994.
transfer can correct porphyria in cell lines from patients with this dis- 32. Scassa ME, Guberman AS, Ceruti JM, et al: Hepatic nuclear factor 3 and nuclear fac-
ease, which suggests that gene therapy may be applicable in the future. 320 tor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin
repression. J Biol Chem 279(27):28082, 2004.
33. Dandekar T, Stripecke R, Gray NK, et al: Identification of a novel iron-responsive
element in murine and human erythroid delta-aminolevulinic acid synthase mRNA.
REFERENCES EMBO J 10(7):1903, 1991.
34. Fujita H, Yamamoto M, Yamagami T, et al: Erythroleukemia differentiation. Distinc-
1. Moore MR, McColl KE: Disorders of Porphyrin Metabolism. Plenum, New York, 1987. tive responses of the erythroid-specific and the nonspecific delta-aminolevulinate syn-
2. Schultz J: Ein fall von pemphigus, kompliziert durch lepra visceralis, in Medicine. thase mRNA. J Biol Chem 266(26):17494, 1991.
Greifswald University, Greifswald, Germany, 1874. 35. Furuyama K, Sassa S: Interaction between succinyl CoA synthetase and the heme-bio-
3. Anderson TM: Hydroa aestivale in two brothers, complicated with the presence of synthetic enzyme ALAS-E is disrupted in sideroblastic anemia. J Clin Invest 105(6):757,
haematoporphyrin in the urine. Br J Dermatol 10:1, 1898. 2000.
4. Harris DF: Haematoporphyrinuria and its relations to the source of urobilin. J Anat 36. Furuyama K, Fujita H, Nagai T, et al: Pyridoxine refractory X-linked sideroblastic
Physiol 31:383, 1897. anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
5. Stokvis BJ: Over Twee Zeldsame Kleuerstoffen in Urine van Zicken. Ned Tijdschr Blood 90(2):822, 1997.
Geneeskd 13:409, 1889. 37. Whatley SD, Ducamp S, Gouya L, et al: C-terminal deletions in the ALAS2 gene lead to
6. Günther H: Die haematoporphyrie. Deutsche Archiv für Klinische Medizin 105:89, gain of function and cause X-linked dominant protoporphyria without anemia or iron
1911. overload. Am J Hum Genet 83(3):408, 2008.
7. Garrod AE: Inborn Errors of Metabolism. Hodder & Stoughton, London, 1923. 38. Sassa S: Delta-aminolevulinic acid dehydratase assay. Enzyme 28(2–3):133, 1982.
8. Waldenström J, Vahlquist BC: Studien uber die entstehung der roten harnpigmente 39. Tsukamoto I, Yoshinaga T, Sano S: The role of zinc with special reference to the essen-
(uroporphyrin und porphobilin) bein der akuten porphyrie aus iher farblosen vorstufe tial thiol groups in delta-aminolevulinic acid dehydratase of bovine liver. Biochim Bio-
(porphobilinogen). Hoppe Seylers Z Physiol Chem 260:189, 1939. phys Acta 570(1):167, 1979.
9. Schmid R, Schwartz S, Watson CJ: Porphyrin content of bone marrow and liver in the 40. Granick JL, Sassa S, Kappas A: Some biochemical and clinical aspects of lead intox-
various forms of porphyria. Arch Intern Med 93:167, 1954. ication, in Advances in Clinical Chemistry, edited by Bodansky O, Latner AL, p 287.
10. Cam C, Nigogosyan G: Acquired toxic porphyria cutanea tarda due to hexachloroben- Academic Press, New York, 1978.
zene. JAMA 183(2):90, 1963. 41. Sassa S, Kappas A: Hereditary tyrosinemia and the heme biosynthetic pathway. Pro-
11. Schmid R: Cutaneous porphyria in Turkey. N Engl J Med 263:397, 1960. found inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone.
12. Ockner RK, Schmid R: Acquired porphyria in man and rat due to hexachlorobenzene J Clin Invest 71(3):625, 1983.
intoxication. Nature 189:499, 1961. 42. Tschudy DP, Hess RA, Frykholm BC: Inhibition of delta-aminolevulinic acid dehy-
13. Schmid R: Acquired porphyria. JAMA 183:133, 1963. drase by 4,6-dioxoheptanoic acid. J Biol Chem 256(19):9915, 1981.
14. Strand LJ, Felsher BF, Redeker AG, et al: Heme biosynthesis in intermittent acute 43. Lindblad B, Lindstedt S, Steen G: On the enzymic defects in hereditary tyrosinemia.
porphyria: Decreased hepatic conversion of porphobilinogen to porphyrins and Proc Natl Acad Sci U S A 74(10):4641, 1977.
increased delta-aminolevulinic acid synthetase activity. Proc Natl Acad Sci U S A 44. Wetmur JG, Bishop DF, Cantelmo C, et al: Human delta-aminolevulinate dehydratase:
67:1315, 1970. Nucleotide sequence of a full-length cDNA clone. Proc Natl Acad Sci U S A 83(20):7703,
15. Bonkowsky HL, Tschudy DP, Collins A, et al: Repression of the overproduction of por- 1986.
phyrin precursors in acute intermittent porphyria by intravenous infusions of hema- 45. Potluri VR, Astrin KH, Wetmur JG, et al: Human delta-aminolevulinate dehydratase:
tin. Proc Natl Acad Sci U S A 68(11):2725, 1971. Chromosomal localization to 9q34 by in situ hybridization. Hum Genet 76(3):236,
16. Granick S, Sassa S: δ-Aminolevulinic acid synthase and the control of heme and chlo- 1987.
rophyll synthesis, in Metabolic Regulation, edited by Vogel HJ, p 77. Academic Press, 46. Erskine PT, Senior N, Awan S, et al: X-ray structure of 5-aminolaevulinate dehydra-
New York, 1971. tase, a hybrid aldolase. Nat Struct Biol 4(12):1025, 1997.
17. Sassa S, Kappas A: Genetic, metabolic and biochemical aspects of the porphyrias, in 47. Bishop TR, Miller MW, Beall J, et al: Genetic regulation of delta-aminolevulinate dehy-
Advances in Human Genetics, edited by Harris H, Hirschhorn K, p 121. Plenum Publi- dratase during erythropoiesis. Nucleic Acids Res 24(13):2511, 1996.
cations, New York, 1981. 48. Wetmur JG, Kaya AH, Plewinska M, et al: Molecular characterization of the human del-
18. McKay R, Druyan R, Getz GS, et al: Intramitochondrial localization of delta-aminolae- ta-aminolevulinate dehydratase 2 (ALAD2) allele: Implications for molecular screening of
vulate synthetase and ferrochelatase in rat liver. Biochem J 114(3):455, 1969. individuals for genetic susceptibility to lead poisoning. Am J Hum Genet 49(4):757, 1991.
19. Riddle RD, Yamamoto M, Engel JD: Expression of delta-aminolevulinate synthase in 49. Inoue R, Akagi R: Co-synthesis of human delta-aminolevulinate dehydratase (ALAD)
avian cells: Separate genes encode erythroid-specific and nonspecific isozymes. Proc mutants with the wild-type enzyme in cell-free system-critical importance of confor-
Natl Acad Sci U S A 86(3):792, 1989. mation on enzyme activity. J Clin Biochem Nutr 43(3):143, 2008.

Kaushansky_chapter 58_p0889-0914.indd 909 9/18/15 5:58 PM