Primary hyperoxaluria type 1 in Japan

American Journal of Nephrology

Volumn 25, Issue 3, 2005, Pages 297-302

  Takayama, Tatsuya ^a   Nagata, Masao ^a   Ichiyama, Arata ^a   Ozono, Seiichiro ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Alanine:glyoxylate aminotransferase; Primary hyperoxaluria; Serine:pyruvate alanine: Glyoxylate aminotransferase

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE;

AGE DISTRIBUTION; CLINICAL FEATURE; CONFERENCE PAPER; EARLY DIAGNOSIS; ENZYME ANALYSIS; ENZYME BLOOD LEVEL; ENZYME DEGRADATION; GRAFT REJECTION; GRAFT SURVIVAL; HUMAN; IMMUNOREACTIVITY; KIDNEY FAILURE; KIDNEY GRAFT; LIVER BIOPSY; LIVER MITOCHONDRION; OXALOSIS 1; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TARGETING; REOPERATION; SAMPLE SIZE; SURVIVAL RATE;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FEMALE; GRAFT SURVIVAL; HUMANS; HYPEROXALURIA, PRIMARY; INCIDENCE; INFANT; INFANT, NEWBORN; JAPAN; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; LIVER; LIVER TRANSPLANTATION; MALE; MIDDLE AGED; SURVIVAL ANALYSIS; TRANSAMINASES;

EID: 23944460059     PISSN: 02508095     EISSN: None     Source Type: Journal    
DOI: 10.1159/000086361     Document Type: Conference Paper

References (28)

1. Danpure CJ, Jennings PR: Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett 1986;201:20-24.
2. Noguchi T, Takada Y: Peroxysomal localization of serine:pyruvate aminotransferase in human liver. J Biol Chem 1978;253:7598-7600.
3. Danpure CJ, Guttridge KM, Fryer P, Jennings PR, Allsop T, Purdue PE: Subcellular distribution of hepatic alanine:glyoxylate aminotransferase in various mammalian species. Cell Sci 1990;97:669-678.
4. Harris KS, Richardson KE: Glycolate in the diet and its conversion to urinary oxalate in the rat. Invest Urol 1980;18:106-109.
5. Takayama T, Fujita K, Suzuki K, Sakaguchi M, Fujie M, Nagai E, Watanabe S, Ichiyama A, Ogawa Y: Control of oxalate formation from L-hydroxyproline in liver mitochondria. J Am Soc Nephrol 2003;14:939-946.
6. Neuman RE, Logan MA: The determination of hydroxyproline. J Biol Chem 1950;184:299-306.
7. Xue HH, Sakaguchi T, Fujie M, Ogawa H, Ichiyama A: Flux of the L-serine metabolism in rabbit, human, and dog livers: substantial contributions of both mitochondrial and peroxisomal serine:pyruvate/alanine:glyoxylate aminotransferase. J Biol Chem 1999;274:16028-16033.
8. Danpure CJ, Purdue PE: Primary hyperoxaluria; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 7. New York, McGraw-Hill, 1995, pp 2385-2424.
9. Latta K, Brodehl J: Primary hyperoxaluria type I. Eur J Pediatr 1990;149:518-522.
10. Kopp N, Leumann E: Changing pattern of primary hyperoxaluria in Switzerland. Nephrol Dial Transplant 1995;10:2224-2227.
11. Milliner DS, Wilson DM, Smith LH: Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. J Nephrol 1998;11(suppl 1):56-59.
12. van Woerden CS, Groothoff JW, Wanders RJ, Davin JC, Wijburg FA: Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant 2003;18:273-279.
13. Purdue PE, Lumb MJ, Allsop J, Minatogawa Y, Danpure CJ: A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. Genomics 1992;13:215-218.
14. Lumb MJ, Danpure CJ: Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. J Biol Chem 2000;275:36415-36422.
15. Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A: Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. Biochem Biophys Res Commun 1991;176:1093-1099.
16. Nishiyama K, Funai T, Yokota S, Ichiyama A: ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case. J Cell Biol 1993;123:1237-1248.
17. Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, Davidson NO: Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. Am J Hum Genet 1993;53:417-432.
18. Danpure CJ, Cooper PJ, Wise PJ, Jennings PR: An enzyme trafficking defect in two patients with primary hyperoxaluria type 1:peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. J Cell Biol 1989;108:1345-1352.
19. Kazama-Saegusa S, Kazama JJ, Sugaya H, Takamiya H, Terano A, Ichiyama A: A case of late onset primary hyperoxaluria type I (PH-I) presented with black liver. Clin Nephrol 1998;50:184-187.
20. Ichiyama A, Oda T, Maeda-Nakai E: Primary hyperoxaluria type 1 in Japan. Cell Biochem Biophys 2000;32:171-176.
21. Matsumura Y, Miyachi Y, Yamamoto H, Hayashi M, Egawa H, Tanaka K: Calcinosis cutis in a patient with primary hyperoxaluria due to hepatic enzyme deficiency. J Dermatol 2001;28:578-579.
22. Sato S, Fuchinoue S, Kimikawa M, Tojimbara T, Nakajima I, Teraoka S, Shiraga H, Ito K: Sequential liver-kidney transplantation from a living-related donor in primary hyperoxaluria type 1 (oxalosis). Transplant Proc 2003;35:373-374.
23. Inoue Y, Masuyama H, Ikawa H, Mitsubuchi H, Kuhara T: Monitoring method for pre- and post-liver transplantation in patients with primary hyperoxaluria type I. J Chromatogr [B] 2003;792:89-97.
24. Fukushima M, Aihara Y, Ichiyama A: Immunochemical studies on induction of rat liver mitochondrial serine:pyruvate aminotransferase by glucagons. J Biol Chem 1978;253:1187-1194.
25. Ishikawa K, Kaneko E, Ichiyama A: Pyridoxal 5′-phosphate binding of a recombinant rat serine:pyruvate/alanine:glyoxylate aminotransferase. J Biochem 1996;119:970-978.
26. Mathews M, Stauffer M, Cameron EC, Maloney N, Sherrard DJ: Bone biopsy to diagnose hyperoxaluria in patients with renal failure. Ann Intern Med 1979;90:777-779.
27. Thompson JS, Richardson KE: Isolation and characterization of a glutamate-glycine transaminase from human liver. Arch Biochem Biophys 1966;117:599-603.
28. Rumsby G, Williams E, Coulter-Mackie M: Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int 2004;66:959-963.