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Urinary Mucopolysaccharides in Acheiropodia

Published online by Cambridge University Press:  01 August 2014

P.A.S. Mourão
Affiliation:
Department of Biochemistry, Paulista School of Medicine, Sao Paulo, SP, Brasil
S.P.A. Toledo*
Affiliation:
Department of Medicine, Clinic Hospital, University of São Paulo, Sao Paulo, SP, Brasil
C.P. Dietrich
Affiliation:
Department of Biochemistry, Paulista School of Medicine, Sao Paulo, SP, Brasil
*
Dpt. of Medicine (Genetic Unit), Clinic Hospital, P.O. Box 8091, São Paulo, SP, Brasil

Abstract

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Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. Although no abnormal pattern was characterized, eventual metabolic dysfunction detected only in bone/cartilage tissues could not be ruled out.

Type
Brief Report
Copyright
Copyright © The International Society for Twin Studies 1977

References

REFERENCES

Baberick, A., Benson, P.F., Dean, M.F., Muir, H. 1974. Chondroitin-sulphaturia with α-L-iduronidase deficiency. Lancet, 2: 464465.Google Scholar
Benson, P.F., Dean, M.F., Muir, H. 1972. A form of mucopolysaccharidosis with visceral storage and excessive urinary excretion of chondroitin sulphate. Develop. Med. Child Neurol., 14: 6974.Google Scholar
Dietrich, C.P. 1969. Enzymatic degradation of heparin, a glucosaminidase and a glycuronidase from Flavobacterium heparinum. Biochemistry, 8: 20892094.CrossRefGoogle Scholar
Dietrich, C.P., Dietrich, S.M.C. 1972. Simple micro method for identification of heparitin and other acidic mucopolysaccharides from mammalian tissues. Anal. Biochem., 46: 209215.Google Scholar
Dietrich, C.P., Nader, H.B., Britto, L.R., Silva, M.E. 1971. Chemical composition of heparitin sulphate. Fractionation and characterization of four acidic mucopolysaccharides in heparitin sulphate from beef lung tissue. Biochim. Byophis. Acta, 237: 430441.Google Scholar
Dietrich, C.P., Nader, H.B., Mourão, P.A.S. 1973. Diferentiation of Hunter's and Hurler's syndromes by the analysis of the excreted mucopolysaccharides. Biochem. Med., 8: 371379.Google Scholar
Freire-Maia, A., Freire-Maia, N., Quelce-Salgado, A. 1958. Genetic aspects of acheiropody. Proc. 10th Int. Congr. Genet., Montreal (Vol. 2, pp. 8889).Google Scholar
Freire-Maia, A. 1970. The handless and footless families of Brazil. Lancet, 1: 519520.Google Scholar
Freire-Maia, A. 1975. Genetics of acheiropodia (“the handless and footless families of Brazil”). Clin. Genet., 7: 98102.Google Scholar
Freire-Maia, A., Freire-Maia, N., Morton, N.E., Azevedo, E.S., Quelce-Salgado, A. 1975. Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. Am. J. Hum. Genet., 27: 521527.Google ScholarPubMed
Lash, J.W., Marzullo, G. 1966. Chemical embryogenesis of skeletal tissues. Birth Defects, 2: 5657.Google Scholar
Matthews, M.B. 1967. Chondroitin sulphate and collagen in inherited defect of chickens. Nature, 213: 12551256.Google Scholar
McKusick, V.A. 1972. Heritable disorders of connective tissue. Saint Louis: CV. Mosby.Google Scholar
Meyer, K., Grumback, M.M., Linker, A., Hoffman, P. 1958. Excretion of sulphated mucopolysaccharides in gargoylism (Hunter's syndrome). Proc. Soc. Exper. Biol. Med., 97: 275279.Google Scholar
Mourão, P.A.S., Toledo, S.P.A., Nader, H.B., Dietrich, C.P. 1973. Excretion of chondroitin sulphate C with low sulphate content by patients with generalized platyspondily. Biochem. Med., 7: 415423.Google Scholar
Murata, K., Ishikawa, T., Oshima, Y. 1970. Enzymatic studies of urinary chondroitin sulphates in normal and systemic connective tissue disease states. Clin. Chim. Acta, 28: 213222.Google Scholar
Phillipart, M., Sugarman, G.I. 1969. Chondroitin-4-sulphate mucopolysaccharidosis - New variant of Hurler's syndrome. Lancet, 2: 854.Google Scholar
Schimke, R.N., Horton, W.A., King, C.R., Martin, N.L. 1974. Chondroitin-6-sulphate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects, 10: 258266.Google ScholarPubMed
Spranger, J.W., Schuster, W., Freitag, F. 1971. Chondroitin-4-sulphate mucopolysaccharidosis. Helv. Paediatr. Acta, 26: 387396.Google Scholar
Spranger, J.W. 1972. The systemic mucopolysaccharidoses. Ergeb. Inn. Med. Kinderheilkd., 32: 165265.Google Scholar
Toledo, S.P.A., Saldanha, P.H. 1969. A radiological and genetic investigation of acheiropody in a kindred including six cases. J. Genet. Hum., 17: 8194.Google Scholar
Toledo, S.P.A., Saldanha, P.H., Borelli, A., Ulhoa-Cintra, A.B. 1972. Further data on acheiropody. J. Genet. Hum., 20: 253258.Google Scholar
Toledo, S.P.A., Dietrich, C.P., Lamego, C, Alves, C.A.R., Assis, L.M., Ulhoa-Cintra, A.B. 1973. Spondyloepiphyseal dysplasia: chondroitin-6-sulphate type. Excerpta Med. Int. Congr. Ser., 297:67.Google Scholar