Untreated classical galactosemia patient with mild phenotype

Molecular Genetics and Metabolism

Volumn 89, Issue 3, 2006, Pages 277-279

  Panis, Bianca ^a   Bakker, Jaap A ^a   Sels, Jean Pierre J E ^a   Spaapen, Leo J M ^a   van Loon, Luc J C ^b   Rubio Gozalbo, M Estela ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Classical galactosemia; Galactose oxidation; Mild phenotype

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ADULT; ARTICLE; CARBOHYDRATE INTAKE; CASE REPORT; CONTROLLED STUDY; DIET RESTRICTION; DIETARY INTAKE; DISEASE SEVERITY; ENZYME ACTIVITY; ERYTHROCYTE; GALACTOSEMIA; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; PHENOTYPIC VARIATION; PRIORITY JOURNAL;

ADULT; CARBON ISOTOPES; GALACTOSE; GALACTOSEMIAS; HUMANS; MALE; OXIDATION-REDUCTION; PHENOTYPE;

EID: 33748964288     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.03.002     Document Type: Article

References (15)

1. Holton J.B., Walter J.H., and Tyfield L.A. Galactosemia. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1553-1587
2. Friedman J.H., Levy H.L., and Boustany R.M. Late onset of distinct neurologic syndromes in galactosemic siblings. Neurology 39 (1989) 741-742
3. Panis B., Forget P.P., van Kroonenburgh M.J., Vermeer C., Menheere P.P., Nieman F.H., and Rubio-Gozalbo M.E. Bone metabolism in galactosemia. Bone 35 (2004) 982-987
4. Schweitzer S., Shin Y., Jakobs C., and Brodehl J. Long-term outcome in 134 patients with galactosaemia. Eur. J. Pediatr. 152 (1993) 36-43
5. Waggoner D.D., Buist N.R., and Donnell G.N. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J. Inherit. Metab. Dis. 13 (1990) 802-818
6. Ridel K.R., Leslie N.D., and Gilbert D.L. An updated review of the long-term neurological effects of galactosemia. Pediatr. Neurol. 33 (2005) 153-161
7. Tyfield L., Reichardt J., Fridovich-Keil J., Croke D.T., Elsas II L.J., Strobl W., Kozak L., Coskun T., Novelli G., Okano Y., Zekanowski C., Shin Y., and Boleda M.D. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum. Mutat. 13 (1999) 417-430
8. Berry G.T., Reynolds R.A., Yager C.T., and Segal S. Extended [13C]galactose oxidation studies in patients with galactosemia. Mol. Genet. Metab. 82 (2004) 130-136
9. Berry G.T., Singh R.H., Mazur A.T., Guerrero N., Kennedy M.J., Chen J., Reynolds R., Palmieri M.J., Klein P.D., Segal S., and Elsas II L.J. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. Pediatr. Res. 48 (2000) 323-328
10. Sokoll L.J., and Sadowski J.A. Comparison of biochemical indexes for assessing vitamin K nutritional status in a healthy adult population. Am. J. Clin. Nutr. 63 (1996) 566-573
11. Waisbren S.E., Norman T.R., Schnell R.R., and Levy H.L. Speech and language deficits in early-treated children with galactosemia. J. Pediatr. 102 (1983) 75-77
12. Berry G.T., Nissim I., Mazur A.T., Elsas L.J., Singh R.H., Klein P.D., Gibson J.B., Lin Z., and Segal S. In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. Biochem. Mol. Med. 56 (1995) 158-165
13. Leslie N.D. Insights into the pathogenesis of galactosemia. Annu. Rev. Nutr. 23 (2003) 59-80
14. Wehrli S.L., Berry G.T., Palmieri M., Mazur A., Elsas III L., and Segal S. Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. Pediatr. Res. 42 (1997) 855-861
15. Lee P.J., Lilburn M., Wendel U., and Schadewaldt P. A woman with untreated galactosaemia. Lancet 362 (2003) 446