Improved Neutrophil Function in a Glycogen Storage Disease Type 1b Patient After Liver Transplantation

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 2004 Feb 12

PMID 14872340

Citations 10

Authors

Masanori Adachi

Masato Shinkai

Youkatsu Ohhama

Katsuhiko Tachibana

Tadatoshi Kuratsuji

Hiroh Saji

Etsuko Maruya

Affiliations

Soon will be listed here.

Abstract

Unlabelled: Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partial liver transplantation (LT) at 18 years of age. After LT, the patient's infectious episodes decreased, gastrointestinal symptoms ameliorated, neutrophil counts increased, and neutrophil function tests normalised.

Conclusion: Although it is not known whether this improvement was causally related to liver transplantation, this may be the first recorded case of restoration of neutrophil dysfunction in a glycogen storage disease type 1b patient.

Citing Articles

Sood V, Squires J, Mazariegos G, Vockley J, McKiernan P J Pediatr Gastroenterol Nutr. 2020; 72(1):11-17.

PMID: 32969959 PMC: 10657650. DOI: 10.1097/MPG.0000000000002952.

Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.

Lee K, Choi S, Kim W, Park S, Moon J, Ko J Pediatr Gastroenterol Hepatol Nutr. 2016; 19(1):71-5.

PMID: 27066451 PMC: 4821985. DOI: 10.5223/pghn.2016.19.1.71.

Inborn errors of metabolism underlying primary immunodeficiencies.

Parvaneh N, Quartier P, Rostami P, Casanova J, de Lonlay P J Clin Immunol. 2014; 34(7):753-71.

PMID: 25081841 DOI: 10.1007/s10875-014-0076-6.

Liver transplantation in glycogen storage disease type I.

Boers S, Visser G, Smit P, Fuchs S Orphanet J Rare Dis. 2014; 9:47.

PMID: 24716823 PMC: 4113191. DOI: 10.1186/1750-1172-9-47.

The SLC37 family of phosphate-linked sugar phosphate antiporters.

Chou J, Jun H, Mansfield B Mol Aspects Med. 2013; 34(2-3):601-11.

PMID: 23506893 PMC: 3602828. DOI: 10.1016/j.mam.2012.05.010.

References

Nakano M, Sugioka K, Ushijima Y, Goto T . Chemiluminescence probe with Cypridina luciferin analog, 2-methyl-6-phenyl-3,7-dihydroimidazo[1,2-a]pyrazin-3-one, for estimating the ability of human granulocytes to generate O2-. Anal Biochem. 1986; 159(2):363-9. DOI: 10.1016/0003-2697(86)90354-4. View

Kure S, Hou D, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T . Glycogen storage disease type Ib without neutropenia. J Pediatr. 2000; 137(2):253-6. DOI: 10.1067/mpd.2000.107472. View

Lopez-Sanroman A, Martin-Vaquero P, Molina-Perez E, Barcena R, Vicente E, Candela A . Liver transplantation for type Ib glycogenosis with reversal of cyclic neutropenia. Clin Nutr. 2001; 20(4):375-7. DOI: 10.1054/clnu.2001.0432. View

Leuzzi R, Banhegyi G, Kardon T, Marcolongo P, Benedetti A, Fulceri R . Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. Blood. 2002; 101(6):2381-7. DOI: 10.1182/blood-2002-08-2576. View

Lei K, Chen Y, Chen H, Wong L, Liu J, McConkie-Rosell A . Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995; 57(4):766-71. PMC: 1801521. View

Lachaux A, Boillot O, Stamm D, Canterino I, Dumontet C, Regnier F . Treatment with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib. J Pediatr. 1993; 123(6):1005-8. DOI: 10.1016/s0022-3476(05)80403-2. View

Starzl T, Demetris A, Trucco M, Ricordi C, Ildstad S, Terasaki P . Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med. 1993; 328(11):745-9. PMC: 2963442. DOI: 10.1056/NEJM199303183281101. View

Weber S, Salguero R, Allers C, Blaheta R, Markus B . Amount of co-transplanted donor-derived leukocytes determines in-vivo microchimerism and mixed lymphocyte culture changes post-liver transplantation. Zentralbl Chir. 2003; 128(4):278-82. DOI: 10.1055/s-2003-38790. View

Weston B, Lin J, Muenzer J, Cameron H, Arnold R, Seydewitz H . Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res. 2000; 48(3):329-34. DOI: 10.1203/00006450-200009000-00011. View

10.

Roe T, Coates T, Thomas D, Miller J, Gilsanz V . Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. N Engl J Med. 1992; 326(25):1666-9. DOI: 10.1056/NEJM199206183262504. View

11.

Itoh Y, Kuratsuji T, Tsunawaki S, Aizawa S, Toyama K . In vivo effects of recombinant human granulocyte colony-stimulating factor on normal neutrophil function and membrane effector molecule expression. Int J Hematol. 1991; 54(6):463-9. View

12.

Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G . Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Biochem Biophys Res Commun. 1998; 248(2):426-31. DOI: 10.1006/bbrc.1998.8985. View

13.

Bass D, Parce J, Dechatelet L, Szejda P, Seeds M, Thomas M . Flow cytometric studies of oxidative product formation by neutrophils: a graded response to membrane stimulation. J Immunol. 1983; 130(4):1910-7. View

14.

Matern D, Starzl T, Arnaout W, Barnard J, Bynon J, Dhawan A . Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr. 1999; 158 Suppl 2:S43-8. PMC: 3006437. DOI: 10.1007/pl00014320. View

15.

Visser G, Rake J, Labrune P, Leonard J, Moses S, Ullrich K . Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002; 161 Suppl 1:S83-7. DOI: 10.1007/s00431-002-1010-0. View

16.

Veiga-da-Cunha M, Gerin I, Chen Y, de Barsy T, de Lonlay P, Dionisi-Vici C . A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet. 1998; 63(4):976-83. PMC: 1377500. DOI: 10.1086/302068. View

17.

Hiraiwa H, Pan C, Lin B, Moses S, Chou J . Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem. 1999; 274(9):5532-6. DOI: 10.1074/jbc.274.9.5532. View

18.

Dunn P, Tyrer H . Quantitation of neutrophil phagocytosis, using fluorescent latex beads. Correlation of microscopy and flow cytometry. J Lab Clin Med. 1981; 98(3):374-81. View

19.

Hou D, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T . Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Am J Med Genet. 1999; 86(3):253-7. DOI: 10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7. View

20.

Ohhama Y, Shinkai M, Fujita S, Nishi T, Yamamoto H, Torigai K . The first cooperative living-related donor liver transplantation performed by two separate institution teams: The Kanagawa Liver Transplantation Program. Surg Today. 1998; 28(2):173-7. DOI: 10.1007/s005950050101. View