Summary
Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these diseases respond well to treatment but may otherwise be fatal, and in order to assure adequate prenatal diagnosis in subsequent pregnancies, a high index of suspicion and rapid diagnosis are necessary in the face of the clinical presentations described. According to three major clinical presentations observed in 218 neonates with inborn errors of intermediary metabolism (neurological distress ‘intoxication’ type, neurological distress ‘energy deficiency’ type and hypoglycaemia with liver dysfunction) and according to the proper use of few laboratory investigations, we propose a method of diagnosis which groups these children into five categories. Initial therapy, and sophisticated investigations can be planned on the basis of this grouping.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Aleck, K. A. and Shapiro, L. J. Genetic metabolic considerations in the sick neonate. Pediatr. Clin. N. Am. 25 (1978) 431–451
Amendt, B. A., Greene, C., Sweetman, L., Cloherty, J., Shih, V., Moon, A., Teel, L. and Rhead, W. J. Short chain acyl-CoA dehydrogenase deficiency. Clinical and biochemical studies in two patients. J. Clin. Invest. 79 (1987) 1303–1309
Ampola, M. G., (Ed.): Early detection and management of inborn errors. Clin. Perinatal. 3 (1976) 1–18
Ballard, R. A., Vinocour, B., Reynolds, J. W., Wennburg, R. P., Merritt, A., Sweetman, L. and Nyhan, W. L. Transient hyperammonemia of the preterm infant. N. Engl. J. Med. 299 (1978) 920–925
Bankier, A., Turner, M. and Hopkins, I. J. Pyridoxine dependent seizures. A wider clinical spectrum. Arch. Dis. Child. 58 (1983) 415–418
Burri, B. J., Sweetman, L. and Nyhan, W. L. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early biotin-responsive multiple carboxylase deficiency. J. Clin. Invest. 68 (1981) 1491–1495
Burton, B. K. Inborn errors of metabolism: the clinical diagnosis in early infancy. Pediatrics 79 (1987) 359–369
Burton, B. K. and Nadler, H. L. Clinical diagnosis of the inborn errors of metabolism in the neonatal period. Pediatrics 61 (1978) 398–405
Cathelineau, L., Briand, P., Ogier, H., Charpentier, C., Coude, F. X. and Saudubray, J. M. Occurence of hyperammonemia in the course of 17 cases of methylmalonic aciduria. J. Pediatr. 99 (1981) 279–281
Chalmers, R. A. and Lawson, A. H. Organic Acids in Man, Chapman and Hall, 1982, Vol. 1
Clayton, P. T. and Thompson, E. Dysmorphic syndrome with demonstrable biochemical abnormalities. J. Med. Genet. 25 (1988) 463–472
Di Mauro, S., Bonilla, E., Zeviani, M., Servidei, S., De Vivo, D. C. and Schon, E. A. Mitochondrial myopathies. J. Inher. Metab. Dis. 10 Suppl. 1 (1987) 113–128
Divry, P., Vianey-Liaud, C., Mory, O. and Ravussin, S. S. A methylglutaconic aciduria familial neonatal form with fatal onset. J. Inher. Metab. Dis. 10 Suppl. 2 (1987) 286–289
Francke, U., Harper, J. F., Darras, B. T., Cowan, J. M., McCabe, E. R. B., Kohlschutter, A., Seltzer, W. K., Saito, F., Goto, J., Harpey, J. P. and Wise, J. E. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: Molecular genetic evidence for deletions. Am. J. Hum. Genet. 40 (1987) 212–227
Goodman, S. I. Inherited metabolic disease in the newborn: approach to diagnosis and treatment. Adv. Pediatr. 33 (1986) 197–224
Goodman, S. I., Frerman, F. E. and Loehr, J. P. Recent progress in understanding glutaric acidemias. Enzyme 38 (1987) 76–79
Kronick, J. B., Scriver, C. R., Goodyear, P. R. and Kaplan, P. B. A perimortem protocol for suspected genetic disease. Pediatrics 71 (1983) 960–963
Mackenzie, W. Urea cycle disorders and other hereditary hyperammonemic syndromes. In Stanbury, J. B. et al. (Eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 402–438
Matsui, S. M., Mahoney, M. J. and Rosenberg, L. E. The natural history of the inherited methylmalonic acidurias. N. Engl. J. Med. 308 (1983) 857–861
Mises, J., Moussalli-Salefranque, F., Laroque, M. L., Ogier, H., Coude, F. X., Charpentier, C. and Saudubray, J. M. EEG findings as an aid to the diagnosis of neonatal nonketotic hyperglycinemia. J. Inher. Metab. Dis. 5 Suppl. 2 (1982) 117–120
Nyhan, W. L. An approach to the diagnosis of overwhelming metabolic diseases in early infancy. Curr. Prob. Pediatr. 7 (1977) 1–12
Nyhan, W. L. and Sakati, N. A. Diagnostic Recognition of Genetic Diseases, Philadelphia, Lea-Febiger, 1987
Poll-The, B. T., Saudubray, J. M., Ogier, J., Lombes, A., Munnich, A. and Frezal, J. Clinical approach to inherited peroxisomal disorders. In Vogel, F. and Sperling, K. (Eds.), Human Genetics, Springer-Verlag, Berlin, 1987, pp. 345–351
Robinson, B. H. and Sherwood, W. G. Lactic acidaemia. J. Inher. Metab. Dis. 7 Suppl. 1 (1984) 69–73
Robinson, B. H., Oei, J., Saudubray, J. M., Marsac, C., Bartlett, K., Quan, F. and Gravel, R. The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe. Am. J. Hum. Genet. 40 (1987) 50–59
Rosenberg, L. A. Disorders of propionate and methylmalonate metabolism. In Stanbury, J. B. et al. (Eds.) The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 474–497
Saudubray, J. M., Ogier, H., Charpentier, C., Depondt, E., Coude, F. X., Munnich, A., Mitchell, G., Rey, F. and Frezal. J. Neonatal management of organic acidurias. Clinical update. J. Inher. Metab. Dis. 7 Suppl. 1 (1984) 2–9
Saudubray, J. M., Specola, N., Middleton, B., Lombes, A., Bonnefont, J. P., Jakobs, C., Vassault, A., Charpentier, C. and Day, R. Hyperketotic states due to inherited defects of ketolysis. Enzyme 38 (1987) 80–90
Schutgens, R. B. H., Schrakamp, G., Wanders, R. J. A., Heymans, H. S. A., Tager, J. M. and van den Bosch, U. Prenatal and perinatal diagnosis of peroxisomal disorders. J. Inher. Metab. Dis. 12 Suppl. 1 (1989) 118–134
Settergren, G., Lindblad, B. S. and Persson, B. Cerebral blood flow and exchange of oxygen, glucose, ketone bodies, lactate, pyruvate and amino acids in infants. Acta Paediatr. Scand. 65 (1976) 343–353
Stanley, C. A. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv. Pediatr. 34 (1987) 59–88
Tanaka, K. and Rosenberg, L. Disorders of branched chain aminoacid and organic acid metabolism. In Stanbury, J. B. et al. (Eds.) The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1983, pp. 440–473
Tildon, J. T. and Cornblath, M. Succinyl-CoA: 3-ketoacidosis in infancy. J. Clin. Invest. 51 (1972) 493–498
Van Biervliet, J. P. G. M., Bruinvis, L., Ketting, D., De Bree, P. K., Van der Heiden, C., Wadman, S. K., Willems, J. L., Brookelman, H., Van Haelst, U. and Monnens, L. A. H. Hereditary mitochondrial myopathy with lactic acidemia, a DeToni-Fanconi-Debré syndrome and a defective respiratory chain in voluntary muscle. Pediatr. Res. 1 (1977) 1088–1093
Vianey-Liaud, C., Divry, P., Gregersen, N., Mathieu, M. The inborn errors of mitochondria fatty acid oxidation. J. Inher. Metab. Dis. 10 Suppl. 1 (1987) 159–198
Wadman, S. K., Duran, M., Beemer, F. A., Cats, B. P., Johnson, J. L., Rajagopalan, K. V., Saudubray, J. M., Ogier, H., Charpentier, C., Berger, R., Smit, G. P. A., Wilson, J. and Krywawych, S. Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase. J. Inher. Metab. Dis. 6 (1983) 78–83
Wolf, B., Grier, R. E., Allen, R. J., Goodman, S. I., Kien, C. L., Parker, W. D., Howell, D. M. and Hurst, D. L. Phenotypic variation in biotinidase deficiency. J. Pediatr. 103 (1983) 233–237
Wysocki, S. J., Hahnel, R. 3 hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. A review. J. Inher. Metab. Dis. 9 (1986) 225–233
Author information
Authors and Affiliations
Editor information
Rights and permissions
Copyright information
© 1989 SSIEM and Kluwer Academic Publishers
About this chapter
Cite this chapter
Saudubray, J.M. et al. (1989). Clinical Approach to Inherited Metabolic Diseases in the Neonatal Period: A 20-year Survey. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_4
Download citation
DOI: https://doi.org/10.1007/978-94-009-1069-0_4
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-6970-0
Online ISBN: 978-94-009-1069-0
eBook Packages: Springer Book Archive