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Yellow color marked pathway is the pentose phosphate pathway; the number in parenthesis is the gene copy found in the genome; GalK: galactokinase (EC 2.71.6); GalE: UDP-glucose 4-epimerase (EC; GalT: UDP-glucose-hexose-1-phosphate uridylyltransferase (EC; GalU: UTP-glucose-1- phosphate uridylyltransferase (EC 2.7.79); PGM: phosphoglucomutase (EC; XI: xylose isomerase (EC; XK: xylulokinase (EC 2.71.17); AI: arabinose isomerase (EC; RK: ribulokinase (EC 2.71.16); RI: ribose 5-phosphate isomerase (EC; RPE: ribulose-phosphate 3-epimerase (EC; TKL: transketolase (EC; TAL: transaldolase (EC
[4] Nonstandard abbreviations: GALK, galactokinase; GALT, galactose-1-phosphate uridylyltransferase; GALE, uridinediphosphate galactose4'-epimerase; UDPGal, uridine diphosphate galactose; UDPGlc, uridine diphosphate glucose; EBV, Epstein-Barr virus; LC-MS/MS, liquid chromatography-tandem mass spectrometry; IRB, Institutional Review Board; Hb, hemoglobin.
The Specific objectives were 1.) To detect and early diagnose newborns affected with CH, PKU, MSD, CAH, GALK, GALT, OA and FAO.
It is important to point out that of the 11 GALK deficient patients, 10 had to be intervened surgically due to bilateral cataracts (vide infra).
It is also important to consider that a positive galactose screening result with a typical GALT screen does not exclude the possibility of GALK or GALE deficiencies or other genetic or infectious causes of hepatic dysfunction.
In some instances, a typical GALT activity in a galactose-positive screen needs to be followed up with either GALK or GALE enzymatic analysis, which is equally labor-intensive (6).
In the GALK assay, radiolabeled [[sup.14]C]-galactose catalysis to [[sup.14]C]-galactose-1-phosphate by endogenous galactokinase is monitored and quantified by using densitometry after chromatographic separation (9).
Increases in blood galactose (Gal) are also observed in other conditions, however: in the relatively rare galactokinase (GALK) deficiency, which can have serious sequelae; in partial GALT deficiency, which has no clinical consequences; and in UDP-galactose-4-epimerase (GALE) deficiency, which has 1 common benign form and 1 extremely rare untreatable form with severe clinical outcomes (2, 3).