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PubMed1960

Galactosemia.

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Galactose↗
PubMed1999

Expression of human inositol monophosphatase suppresses galactose toxicity in Saccharomyces cerevisiae: possible implications in galactosemia.

A suppressor of galactose toxicity in a gal7 yeast strain (lacking galactose 1-phosphate uridyl transferase) has been isolated from a HeLa cell cDNA library. Analysis of the plasmid clone indicated that the insert has an ORF identical to that of hIMPase (human myo-inositol monophosphatase). The ability of hIMPase to suppress galactose toxicity is sensitive to the presence of Li(+) in the medium. A gal7 yeast strain harboring a plasmid containing cloned hIMPase grows on galactose as a sole carbon source. hIMPase mediated galactose metabolism is dependent on the functionality of GAL1 as well as GAL10 encoded galactokinase and epimerase respectively. These results predicted that the UDP-glucose/galactose pyrophosphorylase mediated pathway may be responsible for the relief of galactose toxicity. Experiments conducted to test this prediction revealed that expression of UGP1 encoded UDP-glucose pyrophosphorylase can indeed overcome the relief of galactose toxicity. Moreover, expression of UGP1 allows a gal7 strain to grow on galactose as a sole carbon source. Unlike the hIMPase mediated relief of galactose toxicity, UGP1 mediated relief of galactose toxicity is lithium insensitive. Based on our results and on the basis of available information on galactose toxicity, we suggest an alternative explanation for the molecular mechanism of galactose toxicity.

5'-Nucleotidase↗
PubMed2002

Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy.

In order to assess the pathways by which galactose is metabolized by galactose-1-phosphate uridyltransferase (GALT) deficient cells, lymphoblasts from 10 galactosemic patients with defined genotypes (six Q188R homozygotes, two S153L homozygotes, and two with homozygous deletions) were incubated with 1mM 1- or 2-13C galactose for 2.5 and 5 h. The 13C-labeled metabolites were identified and quantified using nuclear magnetic resonance and the results were compared to that obtained with cells from eight normal individuals. Cells from galactosemic patients formed two to three times the galactose-1-phosphate (Gal-1P) in normal cells, no difference being observed between the various genotypes. Galactitol formation was not significantly different from normal cells. No labeled galactonate was detected. Cells with the Q188R and S135L mutations formed both labeled uridine diphosphogalactose (UDPgal) and uridine diphosphoglucose (UDPglu), but to a lesser extent than normals, whereas cells with the GALT deletion did not. The pattern of 13C enrichment of the ribose carbons of adenosine monophosphate upon incubation of the normal cells with 1-13C galactose paralleled that found for incubations with 1-13C glucose, which is consistent with galactose disposition through the Leloir pathway to glucose and its subsequent metabolism to ribose. Cells with the GALT deletion formed no detectable labeled ribose, whereas cells from a patient homozygous for Q188R mutation formed labeled ribose in a pattern similar to normal albeit with lower enrichment. The results suggest that there is residual GALT activity and function of the Leloir pathway in the presence of the Q188R as well as S135L mutation.

Carbon Isotopes↗