Advertisement

Human Genetics

, Volume 70, Issue 4, pp 347–354 | Cite as

GM1 gangliosidosis: Clinical and laboratory findings in eight families

  • Roberto Giugliani
  • Janice Coelho Dutra
  • Maria Luiza Saraiva Pereira
  • Newra Rotta
  • Maria Lourdes de Drachler
  • Ligia Ohlweiller
  • João Monteiro de Pina Neto
  • Carlos Eduardo Pinheiro
  • Dinis José Breda
Original Investigations

Summary

GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtained for eight families starting from eight index cases exhibiting the childhood form of the disease. The total number of cases in these families may be as high as 14, thus causing GM1 gangliosidosis to be the inborn metabolic error most frequently diagnosed in our service.

Hypotonia, neuromotor retardation, hepatosplenomegaly, macrocephaly, and hydrocele are some of the most frequent clinical findings. The disease evolves towards convulsions and bronchopneumonia, leading to patient death generally during the first half of the second year of life. The presence of vacuolated lymphocytes, alterations of the lumbar vertebrae, and cherry spots on the retina were observed in almost all patients. When tested for inborn metabolic errors, all patients gave normal results, a fact that may have confused and delayed diagnosis. Diagnosis was made by urine oligosaccharide chromatography and confirmed by beta-galactoside measurement in peripheral blood leukocytes. This method proved to be accurate also for the detection of heterozygotes, which permitted post-mortem diagnosis in two families.

The authors speculate that increased fetal loss and tendency towards macrosomy may be possible characteristics of the disease, suggest that testing for vacuolated lymphocytes be used as a screening method, and propose that urine oligosaccharide chromatography be included in the routine screening for inborn metabolic errors.

Keywords

Retina Oligosaccharide Lumbar Vertebra Peripheral Blood Leukocyte Fetal Loss 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Buist NRM (1968) Set of simple side-room urine tests for detection of inborn errors of metabolism. Br Med J 2:745–749Google Scholar
  2. Desnick RJ, Truex JH, Goldberg JD (1977) A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay. In: Kaback MM (ed) Tay-Sachs disease screening and prevention. Alan R. Liss, New York, pp 245–265Google Scholar
  3. Humbel R, Collart M (1975) Oligosaccharides in urine of patients with glycoprotein storage diseases. Clin Chim Acta 60:143–145Google Scholar
  4. Kelly S (1977) Biochemical methods in medical genetics. Charles C Thomas, Illinois, pp 172–177Google Scholar
  5. O'Brien JS (1983) The gangliosidoses. In: Stambury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw Hill, New York, pp 945–969Google Scholar
  6. O'Brien JS, Stern MB, Landing BH, O'Brien JK, Donnell GN (1965) Generalized gangliosidosis. Am J Dis Child 109:338Google Scholar
  7. Okada S, O'Brien JS (1968) Generalized gangliosidosis: Beta-galactosidase deficiency. Science 160:1002Google Scholar
  8. Sewell AC (1979) An improved thin layer chromatographic method for urinary oligosaccharide screening. Clin Chim Acta 92:411–414Google Scholar
  9. Singer JD, Cotlier E, Krimmer R (1973) Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers. Lancet 2:1116–1119Google Scholar
  10. Singer HS, Schafer IA (1970) White cell beta-galactosidase activity. N Engl J Med 282:571Google Scholar
  11. Skog WA, Beck WS (1956) Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 11:436–454Google Scholar
  12. Sokal RR, Rohlf FJ (1969) Biometry. W.M. Freeman, San FranciscoGoogle Scholar
  13. Suzuki K (1977) Globoid cell leukodystrophy (Krabbe disease) and GM1 gangliosidosis. In: Glew R, Peters SP (eds) Practical enzymology of the sphingolipidoses. Alan R. Liss, New York, pp 101–136Google Scholar
  14. Tietz NM (1970) Fundamentals of clinical chemistry. W.B. Saunders, PhiladelphiaGoogle Scholar
  15. Wannmacher CMD, Wajner M, Giugliani R, Giuliani ERJ, Costa MG, Giugliani MCK (1982) Detection of metabolic disorders among high risk patients. Rev Bras Genét 5:187–194Google Scholar

Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • Roberto Giugliani
    • 1
  • Janice Coelho Dutra
    • 1
  • Maria Luiza Saraiva Pereira
    • 1
  • Newra Rotta
    • 2
  • Maria Lourdes de Drachler
    • 2
  • Ligia Ohlweiller
    • 2
  • João Monteiro de Pina Neto
    • 3
  • Carlos Eduardo Pinheiro
    • 4
  • Dinis José Breda
    • 5
  1. 1.Medical Genetics Units, University Hospital of Porto Alegre and Department of BiochemistryUniversidade Federal do Rio Grande do SulBrazil
  2. 2.Pediatrics Service of the University Hospital of Porto Alegre and Department of Pediatrics and PuericultureUniversidade Federal do Rio Grande do SulBrazil
  3. 3.Department of Genetics, Faculty of Medicine of Ribeirão PretoUniversidade de São PauloBrazil
  4. 4.Department of PediatricsUniversidade Federal de Santa CatarinaBrazil
  5. 5.Department of Endocrinology and NutrologyFundação Federal Faculdade de Ciências Médicas de Porto AlegreBrazil

Personalised recommendations