The diagnosis of epimerase deficiency galactosemia is established in a proband with impaired GALE activity in RBC or other cells and/or biallelic pathogenic variants in GALE identified on molecular genetic testing . (nih.gov)
The common acute and potentially lethal symptoms of generalized epimerase deficiency galactosemia are prevented or corrected by a galactose/lactose-restricted diet. (nih.gov)
infants with intermediate epimerase deficiency galactosemia may benefit in the long term from early dietary galactose/lactose restriction, but this remains unclear. (nih.gov)
In generalized epimerase deficiency galactosemia, restriction of dietary galactose/lactose appears to correct or prevent the common acute signs and symptoms of the disorder (hepatic dysfunction, renal dysfunction, and mild cataracts), but not the developmental delay or learning impairment observed in some affected individuals. (nih.gov)
Galactosemia type II (also called galactokinase deficiency) and type III (also called galactoseepimerase deficiency) cause different patterns of signs and symptoms. (medlineplus.gov)
12. Epimerase-deficiency galactosemia is not a binary condition. (nih.gov)
14. Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia. (nih.gov)
16. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. (nih.gov)
Methylmalonyl-CoA epime2
Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. (nih.gov)
Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. (nih.gov)
Ribulose 5-phosphate 3-epimera2
Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE). (bmj.com)
Biochemical studies showed that the proband had half normal activities of both erythrocyte isocitrate dehydrogenase (IDH1) and ribulose 5-phosphate 3-epimerase (RPE). (bmj.com)
Escherichia2
Structural analysis of the Y299C mutant of Escherichia coli UDP-galactose 4-epimerase. (rcsb.org)
5'-monophosphate deaminase from Streptomyces murinus, D-allulose 3-epimerase from Arthrobacter globiformis expressed in Escherichia coli , carbohydrate-derived fulvic acid, jagua (genipin-glycine) blue (Jagua blue), lipase from Mucor javanicus and phosphatidylinositol-specific phospholipase C expressed in Pseudomonas fluorescens ). (who.int)
Galactose-4-epimerase6
UDP-galactose 4-epimerase catalyzes the interconversion of UDP-Gal and UDP-Glc during normal galactose metabolism. (rcsb.org)
Saccharomyces cerevisiae and some related yeasts are unusual in that two of the enzyme activities (galactose mutarotase and UDP-galactose 4-epimerase) required for the Leloir pathway of d-galactose catabolism are contained within a single protein-Gal10p. (brighton.ac.uk)
Scott, A & Timson, DJ 2007, ' Characterization of the Saccharomyces cerevisiae galactose mutarotase/UDP-galactose 4-epimerase protein, Gal10p ', Fems Yeast Research , vol. 7, no. 3, pp. 366-371. (brighton.ac.uk)
Uridine diphosphate (UDP) galactose-4-epimerase epimerizes UDP galactose to UDP glucose and is also uncommon. (medscape.com)
11. Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE). (nih.gov)
15. Relationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast. (nih.gov)
Kinase1
GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. (uni-koeln.de)
Enzyme6
In enzymology, a maltose epimerase (EC 5.1.3.21) is an enzyme that catalyzes the chemical reaction alpha-maltose ⇌ {\displaystyle \rightleftharpoons } beta-maltose Hence, this enzyme has one substrate, alpha-maltose, and one product, beta-maltose. (wikipedia.org)
The systematic name of this enzyme class is maltose 1-epimerase. (wikipedia.org)
By comparing the high resolution x-ray structures of both the bacterial and human forms of the enzyme, it was previously postulated that the additional activity in the human epimerase was due to replacement of the structural equivalent of Tyr-299 in the E. coli enzyme with a cysteine residue, thereby leading to a larger active site volume. (rcsb.org)
Specifically, although the Y299C mutation in the bacterial enzyme resulted in a loss of epimerase activity with regard to UDP-Gal by almost 5-fold, it resulted in a gain of activity against UDP-GalNAc by more than 230-fold. (rcsb.org)
The steady-state kinetic parameters of the epimerase reaction are similar to those of the human enzyme, and are not affected by simultaneous activity at the mutarotase active site. (brighton.ac.uk)
The Position of a Key Tyrosine in Dtdp-4-Keto-6-Deoxy-D-Glucose-5-Epimerase (Evad) Alters the Substrate Profile for This Rmlc-Like Enzyme. (expasy.org)
Enzymes2
These HS chains are modified in the Golgi by modifying enzymes including a C 5 -epimerase that converts GlcA to IdoA and a N-deacetylase/N-sulfotransferase which can deacetylate then sulfate the N-acetyl group of GlcN. (nih.gov)
The third class of enzymes, epimerases, are potentially the most useful biocatalysts for the widespread production of rare sugars because they offer high specificity for products and are capable of selectively modifying sugars at multiple carbon positions. (mit.edu)
Reaction2
One key feature of the epimerase reaction mechanism is the rotation of a 4-ketopyranose intermediate in the active site. (rcsb.org)
But like all biological catalysts, epimerases can be fragile because they require very specific reaction conditions and can only act on previously functionalized sugars. (mit.edu)
Activity2
2001). More recently, a single homologue of DSE, dermatan sulfate epimerase-like (DSEL), has been determined to possess epimerase activity (Pacheco et al. (reactome.org)
The mutarotase active site has a strong preference for galactose over glucose, and is not affected by simultaneous epimerase activity. (brighton.ac.uk)
Crystal Structure1
The crystal structure of the N-acetylglucosamine 2-epimerase from Nostoc sp. (uit.no)
Identification1
Identification and characterization of a UDP-D-glucuronate 4-epimerase in Arabidopsis. (mpg.de)
Short1
Longer-term features that may be seen in those with generalized epimerase deficiency include short stature, developmental delay, sensorineural hearing loss, and skeletal anomalies. (nih.gov)