Molecular characterization of a unique patient with epimerase-deficiency galactosaemia

Journal of Inherited Metabolic Disease

Volumn 21, Issue 4, 1998, Pages 341-350

  Alano, A ^a   Almashanu, S ^a   Chinsky, J M ^b   Costeas, P ^a   Blitzer, M G ^a   Wulfsberg, E A ^a   Cowan, T M ^a  

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

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE; LACTOSE;

ARTICLE; ASIAN; CASE REPORT; DEVELOPMENTAL DISORDER; DIET THERAPY; ENZYME DEFICIENCY; GALACTOSEMIA; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LANGUAGE ABILITY; MALE; MENTAL DEFICIENCY; MOLECULAR BIOLOGY; MOTOR PERFORMANCE; NEWBORN SCREENING; NORTH AMERICA; PHENOTYPE; PRESCHOOL CHILD;

CHILD, PRESCHOOL; GALACTOSEMIAS; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; UDPGLUCOSE 4-EPIMERASE;

EID: 0031821733     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005342306080     Document Type: Article

References (19)

1. Alano A, Almashanu S, Maceratesi P, Reichardt J, Panny S, Cowan TM (1997) UDP-galactose-4′-epimerase deficiency among African Americans: evidence for multiple alleles. J Invest Med 45: 191A.
2. Benn P, Shows TB, D'Ancona GG, Croee CM, Orrwiszewski KG, Mellman WJ (1979) Assignment of the gene for uridine diphosphate galactose-4-epimerase to human chromosome 1 by somatic cell hybridization with evidence for a regional assignment to 1pter-1p21. Cytogenet Cell Genet 24: 138-142.
3. Beutler E (1975) Red Cell Metabolism: A Manual of Biochemical Methods, 3rd edn. Orlando: Grune and Stratton.
4. Daude N, Gallaher TK, Zeschinigk M, et al (1995) Molecular cloning, characterization and mapping of a full-length cDNA encoding human UDP-galactose-4-epimerase. Biochem Mol Med 56: 1-7.
5. Gitzelmann R (1972) Deficiency of uridine diphosphate galactose-4-epimerase in blood cells of an apparently healthy infant. Helv Paediatr Acta 27: 125-130.
6. Gitzelmann R, Steinmann B (1973) Uridine diphosphate galactose-4-epimerase deficiency. II. Clinical follow up, biochemical studies and family investigations. Helv Paediatr Acta 28: 497-510.
7. Gitzelmann R, Steinmann B, Mitchell B, Haigis E (1976) Uridine diphosphate galactose 4-epimerase deficiency IV. Report of eight cases in three families. Helv Paediatr Acta 31: 441-452.
8. Holton JB, Gillett MG, MacFaul R, Young R (1981) Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 56: 885-887.
9. Kingsley D, Kozarsky KF, Hobbie L, Drieger M (1986) Reversible defects in O-linked glycosylation and LDL-receptor expression in a UDP-Gal-UDP-GalNAc-4-epimerase deficient mutant. Cell 44: 749-759.
10. Kirkman HN, Maxwell ES (1960) Enzymatic estimation of erythrocytic galactose-1-phosphate. J Lab Clin Med 56: 161-166.
11. Levy HL, Hammersen G (1978) Newborn screening for galactosemia and other galactose metabolic defects. J Pediatr 92: 871-877.
12. Lin MS, Oizumi J, Ng WG, Alfi OS, Donnel GN (1979) Regional mapping of the gene for human UDPGa14-epimerase on chromosome 1 in mouse-human hybrids. Cytogenet Cell Genet 24: 217-223.
13. Misumi H, Wada H, Kawakami M, et al (1981) Detection of UDP-galactose-4-epimerase deficiency in a galactosaemia screening program. Clin Chim Acta 116: 101-105.
14. 14C]-labelled galactose-1-phosphate. Clin Chim Acta 15: 489-492.
15. Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL (1997) Characterization of two mutations associated with epimerase-deficiency galactosaemia using a yeast expression system for human UDP-galactose-4-epimerase. Am J Hum Genet 61:590-598.
16. Sardharwalla IB, Wraith JE, Bridge C, Fowler B, Roberts SA (1988) A patient with severe type of epimerase deficiency galactosaemia. J Inher Metab Dis 11: 249-251.
17. Segal S, Berry GT (1995) Disorders of galactose metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 453-480.
18. Thoden JB, Frey PA, Holden HM (1996) Crystal structures of the oxidized and reduced forms of UDP-galactose 4-epimerase isolated from Escherichia coli. Biochemistry 35: 2557-2566.
19. Waggoner DD, Buist NRM, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inher Metab Dis 13: 802.