Full text in pdf format

Non-ketotic hyperglycinemia - A typical case detected in a screening program for inborn errors of metabolism

Maria Lúcia C. Oliveira^I; Cesário P.H. Oliveira^I; Ruth E. Simoni^I; Denise M. Grassiano^I; Catarina F. Arnaldo^I; Leonardo C. Azevedo^II; João G. Barbosa Neto^II

^IDepartamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro, Cidade Universitária, Ilha do Fundão, Centro de Tecnologia, Bloco A, 21941 Rio de Janeiro, RJ, Brasil. Send correspondence to M.L.C.O.
^IIInstituto Fernandes Figueiras, Fundação Oswaldo Cruz, Av. Rui Barbosa 716, 22250 Rio de Janeiro, RJ, Brasil

ABSTRACT

We present a typical case of neonatal non-ketotic hyperglycinemia (NKII; McKusick 23830) detected in a screening program for inborn errors of metabolism (IEM) carried out in Rio de Janeiro and confirmed by analyses which characterize the specific findings of this disorder. Clinical symptoms and biochemical characteristics are described and compared to cases previously reported.

Keywords: Plesiomorphic alleles; Synapomorphy.

REFERENCES

Benson, P.F. and Benson, Ail. (1985). Genetic Biochemical Disorders. Oxford Monographs on Medical Genetics n.12, Oxford University Press, New York, pp. 256-257.

Buist, N.R.M. (1968). Set of simple side-room urine tests for detection of inborn errors of metabolism. Brit. Med. J. 2: 745-749.

Hayasaka, K., Tada, K., Fueki, N., Nakamura, Y., Nyhan, W.L., Schmidt, K., Packman, S., Seashore, M.R., Haan, E., Danks, D.M. and Schutgens, R.B.H. (1987). Non-ketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases. J. Pediatr. 110: 873-877.

Leuzzi, V., Morano, S., Moretti, F., Fabbrizi, F. and Antonozzi, I. (1990). Non-ketotic hyperglycinemia: a new case with late on-set. J. Inher. Metab. Dis. 13: 238.

Nyhan, W.L. (1989). Non-ketotic hyperglycinemia. In: The Metabolic Basis of Inherited Disease (Striver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D., eds.). 6th ed., McGraw-H111, New York, pp. 743-753.

Oliveira, C.P.H. (1991). Caracterização de aminoacidemias e aminoacidúrias por método cromatográfico. Doctoral Thesis, Federal University of Rio de Janeiro.

Perry, T.L., Hansen, S. and MacDougall, L. (1966). Urinary screening tests in prevention of mental deficiency. Canad. Med. Ass. J. 95: 89-95.

Pinto, G.F., Costa-Carvalho, V.L.A., Souza, E.R. and Araújo Neto, J.S. (1976). A screening method for protein characterization and differentiation. Journal of the AOAC 59: 584-590.

Saudubray, J.M., Ogier, H., Bonnefont, J.P., Munnich, A., Lombes, A., Hervé, F., Mitchel, G., Poo1 The', B., Specola, N., Parvy, P., Bardet, J., Rabier, D., Coudé, M., Charpentier, C. and Frézal, J. (1989). Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey. J. Inher. Metab. Dis. 12(Suppl. 1): 25-41.

Tada, K., Kure, S., Kume, A. and Hiraga, K. (1990). Genomic analysis of non-ketotic hyperglycinemia. A partial deletion of P-protein gene. J. Inher. Metab. Dis. 13: 766-770.

Toone, J.R. and Applegarth, D.A. (1989). Use of placental enzyme analysis in assessment of the newborn at risk for non-ketotic hyperglycinemia (NKH). J. Inher. Metal,. Dis. 12: 281-285.

Wannmacher, C.M.D., Wajner, M., Buchhalter, M.S., Dutra Filho, C.S., Pellini, V.B., Pedroso, D.L., Branco, F.S., Goldani, M.Z. and Bolner, A.R. (1987). Detection of inborn errors of metabolism in unelected patients from pediatric intensive care units in Porto Alegre, Brazil: evaluation of screening techniques. Brazil. J. Med. Biol. Res. 20: 11-23.

Wenner, D. and Meister, A. (1981). A survey of inborn errors of amino acid metabolism and transport in man. Ann. Rev. Biochem. 50: 911-968.