Aminoacidopatias de interesse neurológico

Diament, Aron J.

doi:10.1590/S0004-282X1974000200002

Resumos

As aminoácidopatias constituem o grupo mais numeroso dos erros inatos do metabolismo, sendo crescente seu número em vista das inúmeras cadeias metabólicas envolvendo os aminoácidos na economia humana. É apresentada uma classificação atualizada das principais aminoacidopatias que determinam sintomatologia neurológica e/ou mental. São revistos os principais métodos de diagnóstico, apontando-se as falhas de algumas metodologias. São abordadas algumas particularidades da fenilcetonúria, leucinose e acidemia propiônica, principalmente no que concerne à variação genética. Finalmente, são apresentadas duas aminoacidopatias recentemente descritas: a aciduria piroglutâmica e a deficiência da beta-metil-crotonil-CoA-carboxilase.

The aminoacidopathies constitute the biggest group of inborn errors of metabolism, keeping growing in number, considering the amount of metabolic chains envolving the aminoacids in the human economy. The author try to presente an up to date classification of the main aminoacidopathies which determine neurological and/or mental symptomatology. As a next step, are presented a review on the main diagnostic methods, pointing out where some methodology fail. Some particularities in phenylketonuria, maple syrup and propionic aciduria, concerning to the genetic variation are reviewed. Finally, two aminoacidopathies recently described are presented: the pyroglutamic aciduria and the beta-methyl-crotonyl-CoA-carboxilase deficiency.

Aminoacidopatias de interesse neurológico

The aminoacidopathies of neurologic interest

Aron J. Diament

Professor-Assistente do Departamento de Neuropsiquiatria (Prof. Horácio M. Canelas) da Faculdade de Medicina da Universidade de São Paulo

RESUMO

As aminoácidopatias constituem o grupo mais numeroso dos erros inatos do metabolismo, sendo crescente seu número em vista das inúmeras cadeias metabólicas envolvendo os aminoácidos na economia humana. É apresentada uma classificação atualizada das principais aminoacidopatias que determinam sintomatologia neurológica e/ou mental. São revistos os principais métodos de diagnóstico, apontando-se as falhas de algumas metodologias. São abordadas algumas particularidades da fenilcetonúria, leucinose e acidemia propiônica, principalmente no que concerne à variação genética. Finalmente, são apresentadas duas aminoacidopatias recentemente descritas: a aciduria piroglutâmica e a deficiência da beta-metil-crotonil-CoA-carboxilase.

SUMMARY

The aminoacidopathies constitute the biggest group of inborn errors of metabolism, keeping growing in number, considering the amount of metabolic chains envolving the aminoacids in the human economy. The author try to presente an up to date classification of the main aminoacidopathies which determine neurological and/or mental symptomatology. As a next step, are presented a review on the main diagnostic methods, pointing out where some methodology fail. Some particularities in phenylketonuria, maple syrup and propionic aciduria, concerning to the genetic variation are reviewed. Finally, two aminoacidopathies recently described are presented: the pyroglutamic aciduria and the beta-methyl-crotonyl-CoA-carboxilase deficiency.

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Departamento de Neuro-Psiquiatria Faculdade de Medicina, Universidade de São Paulo.

Relatório apresentado ao XIº Congresso Nacional de Neurologia, Psiquiatria e Higiene Mental (São Paulo, 9 a 14 de Dezembro de 1973)

1. AUERBACH, V. H.; DI GEORGE, A. M.; CARPENTER, G. G. & WOOD, P. Phenylalaninemia. A study of the diversity of disorders which produce elevation of blood concentrations of phenylalanine. In NYHAN, W. L., ed. Amino Acid Metabolism and Genetic Variation. McGraw-Hill Book Company, New York, 1967, p. 11.
2. AUERBACH, V. H. & DI GEORGE, A. M. Maple Syrup Urine Disease. In HOMMES, F. A. & VAN DEN BERG, C. J., ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 337.
3. BAERLOCHER, K. E. Developmental Aspects of Amino Acid Transport. In HOMMES, F. A. & VAN DER BERG, C. J. Inborn Errors of Metabolism. Academic Press, London, p. 143.
4. BLASKOVICS, M. E. & SHAW, N. F. Hyperphenylalaninemia: Methods for Differential Diagnosis. In BICKEL, H.; HUDSON, F. P. & WOOLF, L. I. Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 20.
5. CANELAS, H. M. Afecções neurológicas da infância: fatores bioquímicos agindo no período pré-natal. Arq. Neuro-Psiquiat. (São Paulo) 29:283, 1971.
6. CENTERWALL, W. R.; CENTERWALL, S. A.; ACOSTA, P.B.; CHINNOCK, R.F.; ARMN, V. & MANN, L.B. Phenylketonuria: dietary management of infants and young children. J. Pediat. 59:93, 1961.
7. DANCIS, J. & MORTIMER, L. Abnormalities of branched chain amino acid metabolism: hypervalinemia, branched-chain ketonuria (maple syrup urine disease), isovaleric acidemia. In STANBURY, J. B.; WYNGAARDEN, J. B. & FREDRICKSON, D. S. The Metabolic Basis of Inherited Disease, 3^th ed., McGraw-Hill Book Company, London, 1972, p. 426.
8. DIAMENT, A. J. & LEFÈVRE, A. B. Fenilcetonúria: estudo clinico e mediante biopsia cerebral. Arq. Neuro-Psiquiat. (São Paulo) 25:1, 1967.
9. EFRON, M. L. & AMPOLLA, M. G. The aminoacidurias. Pediat. Clin. N. Amer. 14:881, 1967.
10. ELDJARN, L.; JELLUM, E. & STOKKE, O. Pyroglutamic aciduria. In HOMMES, F.A. & VAN DER BERG, C. J. ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 255.
11. GOMPERTZ, D. Propionic acidaemia. In HOMMES, F. A. & VAN DER BERG, C. J., ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 291.
12. HAWK, P.B.; OSER, B.L. & SUMMERSON, W.H. Practical Physiological Chemistry. 12^th ed., Blackstone, Philadelphia, 1947, p. 102.
13. HARRIS, H. Genetical theory and inborn errors of metabolism. British Med. J. 1:321, 1970.
14. HOLT, K.S. The biochemical aspects of child neurology. In HOLT, K. & MILNER, J., ed. Neurometabolic Disorders in Childhood. Livingstone, Edinburgh, 1964, p. 2.
15. JEPSON, B. J. Hartnup disease. In STANBURY, J.B.; WYNGAARDEN, J.B. & FREDRICKSON, D.S., ed. The Metabolic Basis of Inherited Disease. 3^th ad., McGraw-Hill Book Company, London, 1972, p. 1486.
16. KAUFMAN, S. & MAX, E.E. Studies on the phenylalanine hydroxilating system in human liver and their relationship to pathogenesis of PKU and hyperphenylalaninemia. In BICKEL, H.; HUDSON, F.P. & WOOLF, L. I., ed. Phenylketonuria and Some Others Inborn Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 13.
17. KOCH, R.; ACOSTA, P.; SHAW, K.N.F.; BLASKOVICS, M.; PARKER, C.; SCHAFFLER, G.; WENZ, E.; WOHLERS, A.; GORTATOWSKI, M.; FISCHER, K.; DOBSON, J.; WILLIAMSON, M. & NEWBERG, P. Clinical aspects of phenylketonuria. In BICKEL, H.; HUDSON, F.P. & WOOLF, L.I., ed. Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 20.
18. LEHNINGER, A.L. Biochemistry. The molecular basis of cell structure and function. Worth Publisher, Inc. New York, 1970, p. 67.
19. MABRY, C.C.; DENNISON, J.C.; NELSON, T.L. & SON, C.D. Maternal phenylketonuria. A cause of mental retardation in children without the metabolic defect. New Engl. J. Med. 269:1404, 1963.
20. MENKES, J.H. & HOLTZMAN, N.A. Neonatal hyperphenylalaninemia: a differential diagnosis. Neuropädiatrie 1:434, 1970.
21. PARTINGTON, M.W. The changing clinical picture of phenylketonuria. In BICKEL, H.; HUDSON, F.P. & WOOLF, L.I., ed. Phenylketonuria and Some Other Inborns Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 26.
22. SCHMIDT, B.J. O laboratório clínico na deficiência mental. In KRYNSKI, S., ed. Deficiência Mental, Livraria Atheneu, São Paulo, 1969, p. 63.
23. SCHMIDT, B.J. & DIAMENT, A.J. Testes de triagem urinários para erros inatos do metabolismo. Rev. Brasil. Def. Ment. 7:34, 1972.
24. SCHMIDT, B.J.; KRYNSKI, S. & DIAMENT, A.J. Plano nacional de estudos para detecção de erros inatos do metabolismo que podem levar à deficiência mental. Resumo In Congresso da Federação das APAES, 6.°, Porto Alegre, 1973.
25. SCRIVER, C.R. Membrane transport in disorders of amino acid metabolism. Amer. J. Dis. Child. 113:170, 1967.
26. STANBURY, Familiar goiter. In STANBURY, J.B.; WYNGAARDEN, J.D. & FREDRICKSON, D.S., ed. The Metabolic Basis of Inherited Disease. 3^th ed., McGraw-Hill Book Company, London, 1972, p. 223.
27. STOKKE, O.; JELLUM, E. & ELDJARN, L. Beta-Methylcrotonil-CoA-Carboxylase deficiency. In HOMMES, F.A. & VAN DER BERG, C.J., ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 321.

Datas de Publicação

Publicação nesta coleção
16 Abr 2013
Data do Fascículo
Jun 1974

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. AUERBACH, V. H.; DI GEORGE, A. M.; CARPENTER, G. G. & WOOD, P. Phenylalaninemia. A study of the diversity of disorders which produce elevation of blood concentrations of phenylalanine. In NYHAN, W. L., ed. Amino Acid Metabolism and Genetic Variation. McGraw-Hill Book Company, New York, 1967, p. 11.

[2] 2. AUERBACH, V. H. & DI GEORGE, A. M. Maple Syrup Urine Disease. In HOMMES, F. A. & VAN DEN BERG, C. J., ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 337.

[3] 3. BAERLOCHER, K. E. Developmental Aspects of Amino Acid Transport. In HOMMES, F. A. & VAN DER BERG, C. J. Inborn Errors of Metabolism. Academic Press, London, p. 143.

[4] 4. BLASKOVICS, M. E. & SHAW, N. F. Hyperphenylalaninemia: Methods for Differential Diagnosis. In BICKEL, H.; HUDSON, F. P. & WOOLF, L. I. Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 20.

[5] 5. CANELAS, H. M. Afecções neurológicas da infância: fatores bioquímicos agindo no período pré-natal. Arq. Neuro-Psiquiat. (São Paulo) 29:283, 1971.

[6] 6. CENTERWALL, W. R.; CENTERWALL, S. A.; ACOSTA, P.B.; CHINNOCK, R.F.; ARMN, V. & MANN, L.B. Phenylketonuria: dietary management of infants and young children. J. Pediat. 59:93, 1961.

[7] 7. DANCIS, J. & MORTIMER, L. Abnormalities of branched chain amino acid metabolism: hypervalinemia, branched-chain ketonuria (maple syrup urine disease), isovaleric acidemia. In STANBURY, J. B.; WYNGAARDEN, J. B. & FREDRICKSON, D. S. The Metabolic Basis of Inherited Disease, 3^th ed., McGraw-Hill Book Company, London, 1972, p. 426.

[8] 8. DIAMENT, A. J. & LEFÈVRE, A. B. Fenilcetonúria: estudo clinico e mediante biopsia cerebral. Arq. Neuro-Psiquiat. (São Paulo) 25:1, 1967.

[9] 9. EFRON, M. L. & AMPOLLA, M. G. The aminoacidurias. Pediat. Clin. N. Amer. 14:881, 1967.

[10] 10. ELDJARN, L.; JELLUM, E. & STOKKE, O. Pyroglutamic aciduria. In HOMMES, F.A. & VAN DER BERG, C. J. ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 255.

[11] 11. GOMPERTZ, D. Propionic acidaemia. In HOMMES, F. A. & VAN DER BERG, C. J., ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 291.

[12] 12. HAWK, P.B.; OSER, B.L. & SUMMERSON, W.H. Practical Physiological Chemistry. 12^th ed., Blackstone, Philadelphia, 1947, p. 102.

[13] 13. HARRIS, H. Genetical theory and inborn errors of metabolism. British Med. J. 1:321, 1970.

[14] 14. HOLT, K.S. The biochemical aspects of child neurology. In HOLT, K. & MILNER, J., ed. Neurometabolic Disorders in Childhood. Livingstone, Edinburgh, 1964, p. 2.

[15] 15. JEPSON, B. J. Hartnup disease. In STANBURY, J.B.; WYNGAARDEN, J.B. & FREDRICKSON, D.S., ed. The Metabolic Basis of Inherited Disease. 3^th ad., McGraw-Hill Book Company, London, 1972, p. 1486.

[16] 16. KAUFMAN, S. & MAX, E.E. Studies on the phenylalanine hydroxilating system in human liver and their relationship to pathogenesis of PKU and hyperphenylalaninemia. In BICKEL, H.; HUDSON, F.P. & WOOLF, L. I., ed. Phenylketonuria and Some Others Inborn Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 13.

[17] 17. KOCH, R.; ACOSTA, P.; SHAW, K.N.F.; BLASKOVICS, M.; PARKER, C.; SCHAFFLER, G.; WENZ, E.; WOHLERS, A.; GORTATOWSKI, M.; FISCHER, K.; DOBSON, J.; WILLIAMSON, M. & NEWBERG, P. Clinical aspects of phenylketonuria. In BICKEL, H.; HUDSON, F.P. & WOOLF, L.I., ed. Phenylketonuria and Some Other Inborn Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 20.

[18] 18. LEHNINGER, A.L. Biochemistry. The molecular basis of cell structure and function. Worth Publisher, Inc. New York, 1970, p. 67.

[19] 19. MABRY, C.C.; DENNISON, J.C.; NELSON, T.L. & SON, C.D. Maternal phenylketonuria. A cause of mental retardation in children without the metabolic defect. New Engl. J. Med. 269:1404, 1963.

[20] 20. MENKES, J.H. & HOLTZMAN, N.A. Neonatal hyperphenylalaninemia: a differential diagnosis. Neuropädiatrie 1:434, 1970.

[21] 21. PARTINGTON, M.W. The changing clinical picture of phenylketonuria. In BICKEL, H.; HUDSON, F.P. & WOOLF, L.I., ed. Phenylketonuria and Some Other Inborns Errors of Amino Acid Metabolism. Georg Thieme Verlag, Stuttgart, 1971, p. 26.

[22] 22. SCHMIDT, B.J. O laboratório clínico na deficiência mental. In KRYNSKI, S., ed. Deficiência Mental, Livraria Atheneu, São Paulo, 1969, p. 63.

[23] 23. SCHMIDT, B.J. & DIAMENT, A.J. Testes de triagem urinários para erros inatos do metabolismo. Rev. Brasil. Def. Ment. 7:34, 1972.

[24] 24. SCHMIDT, B.J.; KRYNSKI, S. & DIAMENT, A.J. Plano nacional de estudos para detecção de erros inatos do metabolismo que podem levar à deficiência mental. Resumo In Congresso da Federação das APAES, 6.°, Porto Alegre, 1973.

[25] 25. SCRIVER, C.R. Membrane transport in disorders of amino acid metabolism. Amer. J. Dis. Child. 113:170, 1967.

[26] 26. STANBURY, Familiar goiter. In STANBURY, J.B.; WYNGAARDEN, J.D. & FREDRICKSON, D.S., ed. The Metabolic Basis of Inherited Disease. 3^th ed., McGraw-Hill Book Company, London, 1972, p. 223.

[27] 27. STOKKE, O.; JELLUM, E. & ELDJARN, L. Beta-Methylcrotonil-CoA-Carboxylase deficiency. In HOMMES, F.A. & VAN DER BERG, C.J., ed. Inborn Errors of Metabolism. Academic Press, London, 1973, p. 321.

Brasil

Brasil

Aminoacidopatias de interesse neurológico

The aminoacidopathies of neurologic interest

Resumos

Datas de Publicação