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Guidelines for emergency specimen collection from critically ill patients suspected of having metabolic diseases

Roberto Giugliani

Unidade de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90210 Porto Alegre, RS, Brasil

ABSTRACT

Many metabolic diseases of genetic origin have an acute and life-threatening presentation. Sometimes the patient progressively worsens and eventually dies before a final diagnosis is reached. For a genetic disease, the diagnosis is important not only for the patient but also for his family, as it will be essential for preventive measures such as carrier detection, genetic counseling and prenatal diagnosis. Since a definite diagnosis depends on the collection of appropriate specimens, and since in many cases time is critical, in this paper we present some guidelines for emergency specimen collection from critically ill patients suspected of having metabolic disease.

Keywords: Emergency specimen collection; Ill patients; Metabolic diseases.

REFERENCES

Bickel, H. (1987). Early diagnosis and treatment of inborn errors of metabolism. Enzyme 38: 14-26. Burton, B.K. (1987). Inborn errors of metabolism: the clinical diagnosis in early infancy. Pediatrics 79: 359-369.

Edwards, MA., Grant, S. and Green, A. (1988). A practical approach to the investigation of amino acid disorders. Ann. Clin. Biochem. 25: 129-141.

Galjaard, H., Willemsen, R., Hoogeveen, A.T., Mancini, G.M.S., Palmeri, S., Verheijen, F.W. and D'Azzo, A. (1987). Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency. Enzyme 38: 132-143.

Green, A. (1989). Guide to diagnosis of inborn errors of metabolism in district general hospitals. J. Clin. Pathol. 42: 84-91.

Greene, C.L., Blitzer, M.G. and Shapira, E. (1988). Inborn errors of metabolism and Reye syndrome: differential diagnosis. J. Pediat. 113: 156-159.

Holton, J.B. (1982). Diagnosis of inherited metabolic diseases in severely ill children. Ann. Clin. Biochem. 19: 389-395.

Kohlschutter, A. (1983). The clinical presentation of organoacidopathies - when to investigate. Neuropediatrics 14: 191-196.

Leonard, J.V. (1985). The early detection and management of inborn errors presenting acutely in the neonatal period. Eur. J. Pediat. 143: 253-257.

McKusick, V.A. (1989). Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. 8th ed., Johns Hopkins University Press, Baltimore.