Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)

Journal of Inherited Metabolic Disease

Volumn 26, Issue 1, 2003, Pages 75-79

  Ng, W G ^a   Xu, Y K ^a   Wong, L J ^b   Kaufman, F R ^a   Buist, N R M ^c   Donnell, G N ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GLUTAMINE; GLYCINE;

ADULT; ANAMNESIS; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FEMALE; FOLLOW UP; GALACTOSEMIA; GENE MUTATION; HUMAN; MOLECULAR GENETICS; OVARY FUNCTION;

ADULT; DNA; FEMALE; GALACTOSEMIAS; HUMANS; MIDDLE AGED; MUTATION; OVARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; URIDINE DIPHOSPHATE GALACTOSE; URIDINE DIPHOSPHATE GLUCOSE;

EID: 0038051213     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1024039916476     Document Type: Article

References (19)

1. Briones P, Giros M, Martinez V (2001) Second spontaneous pregnancy in a galactosemic women homozygous for the Q188R mutation. J Inherit Metab Dis 24: 79-80.
2. Cleary MA, Heptinstall LE, Wraith JE, et al (1995) Galactosemia: relationship of IQ to biochemical control and genotype. J Inherit Metab Dis 18: 151-152.
3. Elsas LJ, Lai K (1998) The molecular biology of galactosemia. Genet Med 1: 40-48.
4. Elsas LJ II, Fridovich-Keil J, Leslie ND (1993) Galactosemia. A molecular approach to the enigma. Int Pediatr 8: 101-109.
5. Greber-Platzer S, Guldberg P, Scheibenreiter S, et al (1997) Molecular heterogeneity of classical and Duarte galactosemia mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat 10: 49-57.
6. Gregersen N, Blakemore A, Winter V et al (1991) Specific diagnosis of medium-chain acylCoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point mutation (G985) in the MCAD gene. Clin Chim Acta 203: 23-24.
7. Kaufman FR, Kogut MD, Donnell GN, et al (1981) Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 304: 994-998.
8. Kaufman FR, Xu YK, Ng WG, Donnell GN (1988) Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediatr 112: 754-756.
9. Kaufman FR, Reichardt JKC, Ng WG, et al (1994) Correlation of cognitive, neurologic and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr 125: 225-227.
10. Kimonis V (2000) A further pregnancy in a woman with classical galactosemia who delivered triplets followed by premature ovarian failure. J Inherit Metab Dis 23(supplement 1): 312.
11. Leslie ND, Immerman EB, Flach JE, et al (1992) The human galactose-1-phosphate uridyltransferase gene. Genomics 14: 474-480.
12. Lo W, Packman S, Nash S, et al (1984) Curious neurologic sequelae in galactosemia. Pediatrics 73: 309-312.
13. Manga N, Jenkins T, Jackson H, et al (1999) The molecular basis of transferase galactosemia in South Africa negroids. J Inherit Metab Dis 22: 37-42.
14. Ng WG, Bergren WR, Donnell GN (1964) Galactose-1-phosphate uridyl transferase activity in galactosemia. Nature 203: 845-847.
15. Reichardt JKV, Berg P (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol Biol Med 5: 107-122.
16. Reichardt JKV, Packman S, Woo SLC (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet 49: 860-867.
17. Tyfield L, Carmichael D (2001) The galactose-1-phosphate uridyl transferase mutation analysis database home page. http/alspac1.ich.bris.ac.uk/galtdb/
18. Wang BBT, Xu Y-K, Ng WG, Wong L-J (1998) Molecular and biochemical basis of galactosemia. Mol Genet Metab 63: 263-269.
19. Xu Y-K, Kaufman FR, Donnell GN, et al (1995) HPLC analysis of uridinediphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients. Clin Chim Acta 240: 21-33.