Erythrocyte uridine diphosphate galactose-4-epimerase deficiency identified by newborn screening for galactosemia in the United States

Screening

Volumn 2, Issue 4, 1993, Pages 179-186

  Ng, Won G ^a   Xu, Yan Kang ^a   Cowan, Tina M ^b   Blitzer, Miriam G ^b   Allen, Richard J ^c   Bock, Hans Georg O ^d   Kruckeberg, Walter C ^d   Levy, Harvey L ^e  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^e State Laboratory Institute   (United States)

Author keywords

American black; Galactosemia; Newborn screening; Uridine diphosphate galactose 4 epimerase deficiency

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; GALACTOSEMIA; HEREDITY; HUMAN; INBORN ERROR OF METABOLISM; MALE; NEWBORN; NEWBORN SCREENING; PEDIGREE; PRIORITY JOURNAL;

EID: 0027133631     PISSN: 09256164     EISSN: None     Source Type: Journal    
DOI: 10.1016/0925-6164(93)90001-Y     Document Type: Article

References (27)

1. Disorders of galactose metabolism
2. Routine screening for inborn errors in the newborn: ‘in-hibition assays,’ instant bacteria and multiple tests
3. A new method of screening for inherited disorders of galactose metabolism
4. Microdetermination of galactose and galactose-lphosphate in dried blood spots
5. Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program
6. A simple screening test for galactosemia based on accumulation of galactose and galactose-1-phosphate
7. Dual-channel continuous-flow system for determination of phenylalanine and galactose: application to newborn screening
8. A simple spot screening test for galactosemia
9. Fluorometric screening procedure for galactosemia utilizing the autoanalyzer
10. Newborn screening for galactosemia and other galactose metabolic defects
11. Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical followup, biochemical studies and family investigation
12. Uridine di-phosphate galactose 4′-epimerase deficiency. IV. Report of eight cases in three families
13. Reversal of UDPgalactose 4-epimerase deficiency of human leukocytes in culture
14. Galactosemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency
15. A patient with severe type of epimerase deficiency galactosemia
16. Uridine diphosphate galactose-4-epimerase deficiency
17. Frequency of UDPgal-4-epimerase (EP) deficiency identified by newborn screening
18. Uridine diphosphate galactose 4-epimerase in human and other mammalian hemolysates
19. Deficiency of uridine diphosphate galactose-4-epimerase in blood cells of an apparently healthy infant — preliminary communication
20. A new mass screening method of detecting UDP-galactose-4epimerase deficiency
21. Uridine diphosphate galactose 4-epimerase deficiency
22. A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosemia
23. Newborn screening for inherited disorders of galactose metabolism
24. Regional mapping of the gene for human UDPGal4-epimerase on chromosome 1 in mouse-human hybrids
25. Galactokinase: evidence for a new racial polymorphism
26. The Negro variant of congenital galactosemia
27. Deficiency of erythrocyte nicotinamide adenine dinucleotide nucleosidase (NADase) activity in the Negro