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Unlabelled: Magnetic response imaging has demonstrated increased signal intensities within the basal ganglia in patients with hepatic encephalopathy; the densities are considered to represent manganese deposition. We measured whole blood manganese concentrations in nine children with congenital portosystemic venous shunts detected by screening tests for galactosaemia. Beyond 1 year of age, these patients showed significantly higher manganese concentrations than controls (2.40 +/- 0.43 versus 1.48 +/- 0.38 micrograms/dl; P = 0.0001). Four of the nine patients were studied by magnetic response imaging. T1-weighted images showed increased signal intensities in the basal ganglia of those four patients, suggesting manganese accumulation.Conclusion: Children with congenital portosystemic venous shunts showed manganese elevations in blood and magnetic response imaging changes in the basal ganglia. These children should avoid excessive manganese intake. [ABSTRACT FROM AUTHOR]

Unlabelled: Concentrations of galactose (Gal) in plasma and galactose metabolites in red blood cells (RBC) were determined in 18 normal neonates and 249 others with hypergalactosaemia according to the Paigen method. Normal neonatal values for plasma Gal, RBC galactose-1-phosphate (Gal-1-P), RBC uridine diphosphate glucose (UDP-Glc), and RBC uridine diphosphate galactose (UDP-Gal) were 0.96 +/- 0.71 mg/dl, 1.69 +/- 1.45 mg/dl of packed RBC, 1.00 +/- 0.45 mg/dl of packed RBC, and 1.44 +/- 0.45 mg/dl of packed RBC, respectively. The UDP-Gal concentration was higher and the UDP-Glc concentration lower than previously reported in normal children. Of the 249 cases with excessive Gal in whole blood, 23 showed high Gal concentrations in plasma; among these, four portacaval shunts and one case of congenital biliary atresia were diagnosed. In subjects homozygous or heterozygous for UDP-Gal-4 epimerase deficiency, concentrations of UDP-Gal and Gal-1-P were elevated only in RBC, corresponding to restriction of the metabolic abnormality to these cells. Most cases of hypergalactosaemia detected by the Paigen method have large excesses of Gal-1-P in RBC. Although a specific diagnosis based solely on blood Gal metabolites is difficult, individual concentrations reflect underlying conditions to some extent.Conclusion: In neonates, uridine diphosphate galactose concentrations were higher and uridine diphosphate glucose concentrations were lower than previously reported paediatric values. Patients with high plasma galactose concentrations should be investigated by hepatic imaging. [ABSTRACT FROM AUTHOR]

Unlabelled: To determine whether plasma levels of total bile acids may provide a useful index for hypergalactosaemia due to porto-systemic shunts, these levels were determined in hypergalactosaemic neonates. Increased levels were found in all cases with portohepatic venous or portocaval shunts. The levels of both total bile acids and galactose were normalized when the shunts disappeared on the echograms. Both bile acids and galactose are almost completely absorbed by the liver via the first portal blood passage. Portosystemic shunts contribute to elevated levels of bile acids and galactose.Conclusion: Increased plasma levels of total bile acids serve as a diagnostic clue to the presence of portosystemic shunts in neonates with hypergalactosaemia. [ABSTRACT FROM AUTHOR]