Infantile cardiomyopathy and neuromyopathy with ?-galactosidase deficiency

Abstract

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 J J, 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 ofcarbamylphosphate 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

Clinical heterogeneity in infantile galactosialidosis

“…Cardiomyopathy and kidney enlargement are two new clinical observations, probably of secondary origin. Cardiac involvement has been reported in cases of 13-galactosidase deficiency [8,15]. Rosenberg et al [15] described cardiac abnormalities in a case of juvenile combined c~-neuraminidase/J3-galactosidase deficiency.…”

“…Viralinfection-associated thrombocytopenia is mostly mild and transient. However, fatal haemorrhage has been reported in cases of measles, rubella and varicellaassociated thrombocytopenia [2,4,7,8].…”

Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis

“…The demonstration of the defect in serum, urine, or mixed leucocytes requires -in contrast to many other lysosomal enzyme deficiencies -sophisticated procedures or is unreliable because of other glucosidases interfering with the assay. The diagnosis can be made conveniently from 2 ml anticoagulated blood, when a pure preparation of lymphocytes [26] is obtained [25]. These cells do not contain interfering glucosidases and demonstrate abnormal glycogen accumulation on electron microscopy [16].…”

“…This is an autosomal recessive lysosomal storage disorder with wide phenotypic variability reaching from intense neurological disease to bone and visceral involvement [24]. Heart disease has been the prominent problem in a few cases [3,17,26,40]. The CM is of the dilatative type, and there may be a terminal myocardial infarction due to atheromatous plaques in the coronary arteries.…”

“…The mitral valve may be thickened. Morphologic evidence of lysosomal pathology can be obtained from isolated blood lymphocytes [26]. The enzyme defect can be shown in serum, mixed blood leucocytes, many tissues, cultivated fibroblasts, and amniotic fluid cells [35].…”