Classic Galactosemia and Clinical Variant ... | 合法醫療器材資訊網
GeneReviewScope·由GTBerry著作·2020·被引用82次—ThisGeneReviewfocuseson:Classicgalactosemia,whichcanresultinlife-threateningcomplicationsincludingfeeding ...
Galactosemia caused by deficiency of the enzyme galactose-1-phosphate uridylyltranserase (GALT) may be divided into three clinical/biochemical phenotypes: (1) classic galactosemia, (2) clinical variant galactosemia, and (3) biochemical variant galactosemia (not covered in this GeneReview; see, for example, Duarte Variant Galactosemia[1]). This categorization is based on residual erythrocyte GALT enzyme activity; the levels of galactose metabolites (e.g., erythrocyte galactose-1-phosphate and urine galactitol) that are observed both off and on a lactose-restricted diet; and, most importantly, the likelihood that the affected individual will develop acute and chronic long-term complications. This categorization allows for proper counseling of the parents of an infant with galactosemia, especially regarding the so-called diet-independent complications.
Classic GalactosemiaScenario 1 – Abnormal newborn screening (NBS) result and ...
Classic Galactosemia and Clinical Variant ... | 合法醫療器材資訊網
Classic Galactosemia and Clinical Variant Galactosemia | 合法醫療器材資訊網
Duarte Variant Galactosemia - GeneReviews® | 合法醫療器材資訊網
Duarte Variant Galactosemia | 合法醫療器材資訊網
Epimerase Deficiency Galactosemia | 合法醫療器材資訊網
Galactosemia | 合法醫療器材資訊網
OMIM Entry | 合法醫療器材資訊網
Table 3. [GALT Genotypes and BiochemicalClinical ... | 合法醫療器材資訊網
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