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Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening.

Abstract：

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.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Mizoguchi N,Ono H,Eguchi T,Sakura N

doi

10.1007/pl00008352

keywords:

subject

Has Abstract

pub_date

2000-11-01 00:00:00

pages

851-3

issue

11

eissn

0340-6199

issn

1432-1076

journal_volume

159

pub_type

杂志文章

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