Aspartylglucosaminuria in a Canadian family

Clinical and Investigative Medicine

Volumn 21, Issue 3, 1998, Pages 114-123

  Gordon, Bruce A ^a,d   Rupar, C Anthony ^a   Rip, Jack W ^a   Haust, M Daria ^a   Coulter Mackie, Marion B ^b   Scott, Eileen ^c   Hinton, George G ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c Southwestern Regional Centre   (Canada)

^d Ministry of Children and Youth Services Child and Parent Resource Institute   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACID HYDROLASE; GLUCOSAMINE DERIVATIVE; MANNOSE; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ADOLESCENT; ADULT; ARTICLE; ASPARTYLGLYCOSAMINURIA; ASPIRATION PNEUMONIA; BRONCHOPNEUMONIA; CANADA; CASE REPORT; CELL INCLUSION; CELL ULTRASTRUCTURE; CHILD; COGNITIVE DEFECT; DEATH; DIARRHEA; ENDOTHELIUM CELL; ENZYME ACTIVITY; FACE MALFORMATION; FEMALE; FIBROBLAST; GLIA CELL; HUMAN; HUMAN CELL; INGUINAL HERNIA; LEUKOCYTE; LIVER; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NERVE CELL; PERICYTE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; SIBLING;

ACETYLGLUCOSAMINE; ADULT; ASPARTYLGLUCOSYLAMINASE; CANADA; CHILD; FEMALE; HUMANS; LYSOSOMAL STORAGE DISEASES; MALE; MIDDLE AGED; PEDIGREE;

EID: 0031776277     PISSN: 0147958X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Aula P, Autio S, Raivio KO, Rapola J. Aspartylglucosaminuria. In: Durand P, O'Brien JS, editors. Genetic errors of glycoprotein metabolism. Berlin: Springer-Verlag; 1982. p. 123-52.
2. Mononen T, Mononen I, Matilainen R, Airaksinen E. High prevalence of aspartylglucosaminuria among school-age children in eastern Finland. Hum Genet 1991;87:266-8.
3. Pollitt RJ, Jenner FA, Merskey H. Aspartylglucosaminuria. An inborn error of metabolism associated with mental defect. Lancet 1968;2:253-5.
4. Chitayat D, Nakagawa S, Marion RW, Sachs GS, Hahm SYE, Goldman HS. Aspartylglucosaminuria in a Puerto Rican Family: additional features of a panethnic disorder. Am J Med Genet 1988;31:527-32.
5. Haworth JC, Seargeant LE, Dilling LA. Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy. J Inherit Metab Dis 1992;15:933-4.
6. Hreidarsson S, Thomas GH, Valle DL, Stevenson RE, Taylor H, McCarthy J, Coker SB, Green WR. Aspartylglucosaminuria in the United States. Clin Genet 1983;23:427-35.
7. Isenberg JN, Sharp HL. Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis. J Pediatr 1975;86:713-7.
8. Laitinen A, Hietala M, Haworth JC, Schroeder ML, Seargeant LE, Greenberg CR, Aula P. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplanation. Clin Genet 1997;51:174-8.
9. Gehler J, Sewell AC, Becker C, Spranger J, Hartman, J. Aspartylglucosaminuria in an Italian family. Clinical and biochemical characteristics. J Inherit Metab Dis 1981;4:229-30.
10. Ikonen E, Aula P, Grön K, Tollersrud O, Halila R, Manninen J, Syvänen A-C, Peltonen L. Spectrum of mutations in aspartylglucosaminuria. Proc Natl Acad Sci USA 1991;88:11222-6.
11. Park H, Rossiter M, Fensom AH, Winchester B, Aronson NN Jr. Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglucosaminuria in a patient of Mauritian origin. J Inherit Metab Dis 1996;19:76-83.
12. Peltola M, Tikkanen R, Peltonen L, Jalanko A. Ser72→Pro-active site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. Hum Molec Genet 1996;5:253-5.
13. Yoshida K, Ikeda S, Yanagisawa N, Yamauchi T, Tsuji S, Hirabayashi Y. Two Japanese cases with aspartylglucosaminuria: clinical and morphological features. Clin Genet 1991;40:318-25.
14. Ziegler R, Schmidt H, Sawell AC, Weglage J, v Lengerke JH, Ullrich K. Aspartylglucosaminurie: Klinische Bescreibung von zwei deutschen Patienten. Med Kinder 1989;137:454-7.
15. Thomas GH, Beaudet AL. Disorders of glycoprotein degradation and structure: α-mannosidosis, β-mannosidosis, fucosidosis, sialidosis, aspartylglucosaminuria, and carbohydrate deficient glycoprotein syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and molecular basis of inherited disease. 7th ed. New York: McGraw-Hill; 1995. p. 2529-61.
16. Humbel R, Collart M. Oligosaccharides in urine of patients withglycoprotein storage diseases. I. Rapid detection by thin-layer chromatography. Clin Chim Acta 1975;60:143-5.
17. Beale D. Aminoacid phenylthiohydantoins dimethylaminonapthalenesulphonyl (dansyl) aminoacids and sequence analysis of proteins. In: Smith I, editor. Chromatographic and electrophoretic techniques. 3rd ed. London (UK): William Heinemann Medical Books; 1969. p. 189-223.
18. Strecker G, Lemaire-Poitau A. Fractionation and characterization of acidic oligosaccharides and glycopeptides from normal and pathological urines. J Chromatog 1977;143:553-69.
19. Sergovich F. Laboratory cytogenetics. In: Raphael S, editor. Lynch's medical laboratory technology. Vol 2. 3rd ed. Philadelphia: Saunders; 1976. p. 1425-7.
20. Rip JW, Coulter-Mackie MB, Rupar CA, Gordon BA. Purification and structure of human liver aspartylglucosaminidase. Biochem J 1992;288:1005-10.
21. Makino M, Kojimo T, Yamashina J. Enzymatic cleavage of glycopeptides. Biochim Biophys Res Commun 1966;24:961-6.
22. Haust MD, Gatfield PD, Gordon BA. Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia and homocitrullinuria. Human Pathol 1981;12:212-23.
23. Arstila AU, Palo J, Haltia M, Riekkinen P, Autio S. Aspartylglucosaminuria I. Fine structural studies on liver, kidney and brain. Acta Neuropathol (Berl) 1972;20:207-16.
24. Isenberg JN, Sharp HL. Aspartylglucosaminuria: unique biochemical and ultrastructural characteristics. Hum Pathol 1976;7:469-81.
25. Haltia M, Palo J, Autio S. Aspartylglucosaminuria: a generalized storage disease. Morphological and histochemical studies. Acta Neuropathol (Berl) 1975;31:243-55.
26. Aula P, Rapola J, Anderson LC. Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders. Virchows Arch B Cell Pathol 1975;18:263-71.
27. Aronson NN Jr, Kuranda MJ. Lysosomal degradation of Asn-linked glycoproteins. FASEB J 1989;36:2615-22.
28. Maury P. Accumulation of two glycoasparagines in the liver in aspartylglucosaminuria. J Biol Chem 1979;254:1513-15.
29. Fisher KJ, Tollersrud OK, Aronson NN Jr. Cloning and sequence analysis of a cDNA for human glycosylasparaginase: a single gene encodes the subunits of this lysosomal amidase. FEBS Lett 1990;269:440-4.
30. Ikonen E, Baumann M, Grön K, Syvänen A, Enomaa N, Halila R, Aula P, Peltonen L. Aspartylglucosaminiuria: cDNA encoding human aspartylglucso-aminidase and the missense mutation causing the disease. EMBO J 1991;10:51-8.
31. 163→Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits. J Biol Chem 1991;266:12105-13.
32. Ikonen E, Enomaa N, Ulmanen I, Peltonen L. In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation. Genomics 1991;11:206-11.
33. Ikonen E, Ulmanen I, Peltonen L. Deletion of 3′- untranslated region of aspartylglucosaminidase mRNA results in a lysosomal accumulation disease. J Biol Chem 1992;267:8715-8.
34. Park H, Vettese MB, Fensom AH, Fisher KJ, Aronson NN Jr. Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient. Biochem J 1993;290:735-41.
35. Peltola M, Chitayat D, Peltonen L, Jalanko A. Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon. Hum Molec Genet 1994;3:2237-42.
36. Yoshida K, Yanagisawa N, Oshima A, Sakuraba H, Iida Y, Suzuki. Splicing defect of the glycoasparaginase gene in two Japanese siblings with aspartylglucosaminuria. Hum Genet 1992;90:179-80.