Abstract
The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features. The two older female patients have normal pubertal development.
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- Berry G. T., Nissim I., Lin Z., Mazur A. T., Gibson J. B., Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet. 1995 Oct 21;346(8982):1073–1074. doi: 10.1016/s0140-6736(95)91745-4. [DOI] [PubMed] [Google Scholar]
- Daude N., Gallaher T. K., Zeschnigk M., Starzinski-Powitz A., Petry K. G., Haworth I. S., Reichardt J. K. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. Biochem Mol Med. 1995 Oct;56(1):1–7. doi: 10.1006/bmme.1995.1048. [DOI] [PubMed] [Google Scholar]
- Garibaldi L. R., Canini S., Superti-Furga A., Lamedica G., Filocamo M., Marchese N., Borrone C. Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. J Pediatr. 1983 Dec;103(6):927–930. doi: 10.1016/s0022-3476(83)80719-7. [DOI] [PubMed] [Google Scholar]
- Garibaldi L., Superti-Furga A., Borrone C. Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. J Pediatr. 1986 Dec;109(6):1074–1075. doi: 10.1016/s0022-3476(86)80305-5. [DOI] [PubMed] [Google Scholar]
- Henderson M. J., Holton J. B., MacFaul R. Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. J Inherit Metab Dis. 1983;6(1):17–20. doi: 10.1007/BF02391187. [DOI] [PubMed] [Google Scholar]
- Holton J. B., Gillett M. G., MacFaul R., Young R. Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child. 1981 Nov;56(11):885–887. doi: 10.1136/adc.56.11.885. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jaeken J., Pirard M., Adamowicz M., Pronicka E., van Schaftingen E. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr Res. 1996 Nov;40(5):764–766. doi: 10.1203/00006450-199611000-00017. [DOI] [PubMed] [Google Scholar]
- Kingsley D. M., Krieger M., Holton J. B. Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia. N Engl J Med. 1986 May 8;314(19):1257–1258. [PubMed] [Google Scholar]
- Maceratesi P., Daude N., Dallapiccola B., Novelli G., Allen R., Okano Y., Reichardt J. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Mol Genet Metab. 1998 Jan;63(1):26–30. doi: 10.1006/mgme.1997.2645. [DOI] [PubMed] [Google Scholar]
- Sardharwalla I. B., Wraith J. E., Bridge C., Fowler B., Roberts S. A. A patient with severe type of epimerase deficiency galactosaemia. J Inherit Metab Dis. 1988;11 (Suppl 2):249–251. doi: 10.1007/BF01804249. [DOI] [PubMed] [Google Scholar]