Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity

Molecular Genetics and Metabolism

Volumn 82, Issue 2, 2004, Pages 137-143

  Kleta, Robert ^a,b   Morse, Richard P ^c   Orvisky, Eduard ^d   Krasnewich, Donna ^a   Alroy, Joseph ^e   Ucci, Angelo A ^e   Bernardini, Isa ^a   Wenger, David A ^f   Gahl, William A ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^e TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Infantile free sialic acid storage disease; ISSD; Lysosomal storage; N acetylneuraminic acid; Salla disease; Sialic acid

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CENTRIFUGATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC CODE; GENOMICS; HETEROZYGOSITY; HUMAN; LANGUAGE; MOTOR ACTIVITY; PERINATAL PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN BIOPSY; STORAGE DISEASE; URINARY EXCRETION;

BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLASTS; HUMANS; INFANT; LYSOSOMES; MALE; N-ACETYLNEURAMINIC ACID; ORGANIC ANION TRANSPORTERS; SIALIC ACID STORAGE DISEASE; SKIN; SYMPORTERS;

EID: 2542442511     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.03.001     Document Type: Article

References (23)

1. Aula P., Gahl W.A. Disorders of free sialic acid storage. Scriver C.R., Beaudet A.L., Valle D., Sly W.S. The Metabolic and Molecular Bases of Inherited Disease. eighth ed. 2001;5109-5120 McGraw-Hill, New York
2. Lemyre E., Russo P., Melançon S.B., Gagné R., Potier M., Lambert M. Clinical spectrum of infantile free sialic acid storage disease. Am. J. Med. Genet. 82:1999;385-391
3. Schleutker J., Leppänen P., Månsson J.E., Erikson A., Weissenbach J., Peltonen L., Aula P. Lysosomal free sialic acid storage disorders with different phenotypic presentations - infantile-form sialic acid storage disease and Salla disease - represent allelic disorders on 6q14-15. Am. J. Hum. Genet. 57:1995;893-901
4. Verheijen F.W., Verbeek E., Aula N., Beerens C.E., Havelaar A.C., Joosse M., Peltonen L., Aula P., Galjaard H., van der Spek P.J., Mancini G.M. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat. Genet. 23:1999;462-465
5. Aula P., Autio S., Raivio K.O., Rapola J., Thodén C.J., Koskela S.L., Yamashina I. Salla disease: a new lysosomal storage disorder. Arch. Neurol. 36:1979;88-94
6. Renlund M., Aula P., Raivio K.O., Autio S., Sainio K., Rapola J., Koskela S.L. Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. Neurology. 33:1983;57-66
7. Renlund M., Tietze F., Gahl W.A. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Science. 232:1986;759-762
8. Tietze F., Seppala R., Renlund M., Hopwood J.J., Harper G.S., Thomas G.H., Gahl W.A. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. J. Biol. Chem. 264:1989;15316-15322
9. Aula N., Salomäki P., Timonen R., Verheijen F., Mancini G., Månsson J.E., Aula P., Peltonen L. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am. J. Hum. Genet. 67:2000;832-840
10. Leroy J.G., Seppala R., Huizing M., Dacremont G., De Simpel H., Van Coster R.N., Orvisky E., Krasnewich D.M., Gahl W.A. Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am. J. Hum. Genet. 68:2001;1419-1427
11. Kleta R., Aughton D.J., Rivkin M.J., Huizing M., Strovel E., Anikster Y., Orvisky E., Natowicz M., Krasnewich D., Gahl W.A. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. Am. J. Med. Genet. A. 120:2003;28-33
12. Seppala R., Tietze F., Krasnewich D., Weiss P., Ashwell G., Barsh G., Thomas G.H., Packman S., Gahl W.A. Sialic acid metabolism in sialuria fibroblasts. J. Biol. Chem. 266:1991;7456-7461
13. Blom H.J., Andersson H.C., Seppala R., Tietze F., Gahl W.A. Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. Biochem. J. 268:1990;621-625
14. Norio R. The Finnish disease heritage III: the individual diseases. Hum. Genet. 112:2003;470-526
15. Varho T.T., Alajoki L.E., Posti K.M., Korhonen T.T., Renlund M.G., Nyman S.R., Sillanpaa M.L., Aula P.P. Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediatr. Neurol. 26:2002;267-273
16. Erikson A., Aula N., Aula P., Mansson J.E. Free sialic acid storage (Salla) disease in Sweden. Acta Paediatr. 91:2002;1324-1327
17. Sonderby Christensen P., Kaad P.H., Ostergaard J.R. Two cases of Salla disease in Danish children. Acta Paediatr. 92:2003;1357-1358
18. Martin R.A., Slaugh R., Natowicz M., Pearlman K., Orvisky E., Krasnewich D., Kleta R., Huizing M., Gahl W.A. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. Am. J. Med. Genet. A. 120:2003;23-27
19. Linnankivi T., Lonnqvist T., Autti T. A case of Salla disease with involvement of the cerebellar white matter. Neuroradiology. 45:2003;107-109
20. Prasad A., Kaye E.M., Alroy J. Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases. J. Child Neurol. 11:1996;301-308
21. Tondeur M., Libert J., Vamos E., Van Hoof F., Thomas G.H., Strecker G. Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Eur. J. Pediatr. 139:1982;142-147
22. Varho T., Jaaskelainen S., Tolonen U., Sonninen P., Vainionpaa L., Aula P., Sillanpaa M. Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology. 55:2000;99-104
23. Wenger D.A., Coppola S., Liu S.L. Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy. Genet. Med. 4:2002;412-419