Abstract
A neonate with pronounced hyperammonaemia died at the age of 6 days. Absence of liver carbamyl phosphate synthetase activity was demonstrated. This is the eighth reported patient with a severe variant of isolated mitochondrial carbamyl phosphate synthetase deficiency.
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References
Arashima S, Matsuda I (1972) A case of carbamyl phosphate synthetase deficiency. Tohoku J Exp Med 107:143–147
Bachmann C, Colombo JP (1980) Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias. Eur J Pediatr 134:109–113
Bachmann C, Krähenbühl S, Colombo JP, Schubiger G, Jaggi KH, Tönz O (1981) N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. N Engl J Med 304:543
Ballard R, Vinocur B, Reynolds J, Wennberg R, Merritt A, Sweetman L, Nyhan W (1978) Transient hyperammonemia of the preterm infant. N Engl J Med 299:920–925
Batshaw M, Brusilow S, Walser M (1975) Treatment of carbamyl phosphate synthetase deficiency with ketoanalogues of essential amino acids. N Engl J Med 292: 1085–1090
Batshaw ML, Brusilow SW (1980) Treatment of hyperammonemic coma caused by inborn errors of urea synthesis. J Pediatr 97:893–900
Eggermont E, Devlieger H, Marchal G, Jaeken J, Vandenbussche E, Smeets E, Vanacker G, Corbeel L (1980) Angiographic evidence of low portal liver perfusion in transient neonatal hyperammonaemia. Acta Paediatr Belg 33:163–169
Farriaux JP, Ponte C, Pollitt RJ, Lequien P, Formstecher P, Dhondt JL (1977) Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms. Acta Paediatr Scand 66:529–534
Freeman JM, Nicholson JF, Schimke RT, Rowland LP, Carter S (1970) Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase. Arch Neurol 23:430–437
Gelehrter TD, Snodgrass PJ (1974) Lethal neonatal deficiency of carbamyl phosphate synthetase. N Engl J Med 290: 430–433
Hommes FA, De Groot CJ, Wilmink CW, Jonxis JHP (1969) Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage. Arch Dis Childh 44:688–693
Kline JJ, Hug G, Schubert WK, Berry H, (1981) Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency. Am J Dis Child 135: 437–442
Lambotte C, Adam A, Van Der Hofstadt J, Dodinval-Versie J, Gielen J (1977) Severe neonatal deficiency of carbamylphosphate synthetase. Acta Paediatr Belg 30:151–155
Mantagos S, Tsagaraki S, Burgess EA, Oberholzer V, Palmer T, Sacks J, Baibas S, Valaes T (1978) Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity. Arch Dis Childh 53:230–234
Mc Reynolds JW, Crowley B, Mahoney MJ, Rosenberg LE (1981) Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet 33:345–353
Odièvre M, Charpentier C, Cathelineau L, Vedrenne J, Delacoux les Roseaux F, Mercie C (1973) Hyperammoniémie constitutionelle avec déficit en carbamylphosphate-synthétase. Arch Fr Pediatr 30:5–13
Packman S, Mahoney MJ, Tanaka K, Hsia YE, (1978) Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency. J Pediatr 92:769–771
Sheffield LJ, Danks DM, Hammond JW, Hoogenraad NJ (1976) Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia. J Pediatr 88: 450–452
Shih VE (1978) Urea cycle disorders and other congenital hyperammonemic syndromes. In: JB Stanbury, JB Wijngaarden, DS Fredrickson eds., The metabolic basis of inherited disease. New York: Mc Graw-Hill pp 362–386
Van Gennip AH, Van Bree-Blom EJ, Crift J, De Bree PK, Wadman SK (1980) Urinary purines and pyrimidines in patients with hyperammonemia of various origins. Clin Chim Acta 104:227–239
Wilson RG, Masters PL (1977) Neonatal death due to carbamyl phosphate synthetase deficiency. Aust Pediat J 13:119–121.
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Jaeken, J., Devlieger, H., Bachmann, C. et al. Carbamyl phosphate synthetase deficiency with lethal neonatal outcome. Eur J Pediatr 139, 72–75 (1982). https://doi.org/10.1007/BF00442085
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DOI: https://doi.org/10.1007/BF00442085