- ... phosphate epimerase deficiency; GALT; GALK; GALE; Epimerase deficiency galactosemia; GALE deficiency; Galactosemia type III; UDP-galactose-4; Duarte variant
- ... term GeneReviews Advanced Search Help < Prev Next > Classic Galactosemia and Clinical Variant Galactosemia Synonyms: Galactose-1-Phosphate Uridylyltranserase Deficiency, GALT Deficiency ...
- ... GeneReviews Advanced Search Help < Prev Next > Epimerase Deficiency Galactosemia Synonyms: Galactosemia Type III, GALE Deficiency, UDP-Galactose- ... least in the neonatal period. Generalized Epimerase Deficiency Galactosemia Generalized epimerase deficiency galactosemia is rare, with only ...
- ... only on official, secure websites. What is a galactosemia test? A galactosemia test is a blood test ... GALE deficiency. Why does my baby need a galactosemia test? Newborns in the United States are required ...
- ... GeneReviews Advanced Search Help < Prev Next > Duarte Variant Galactosemia Synonym: Duarte Galactosemia Judith L Fridovich-Keil , PhD, ... For information on selection criteria, click here . Duarte Galactosemia www.duartegalactosemia.org Medical Home Portal Galactosemia Newborn ...
- Galactosemia screen; GALT; Gal-1-PUT ... This is a screening test for galactosemia. In normal diets, most galactose comes from the breakdown ( metabolism ) of lactose, which is found in milk and dairy products. One out ...
- An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to ... and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions.
- ... published></health-condition-summary><health-condition-summary ><name >Galactosemia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... acidemia FBP1 Fructose-1,6-bisphosphatase deficiency GALT Galactosemia (See Classic Galactosemia & Clinical Variant Galactosemia .) AR SERPINA1 Alpha-1 antitrypsin ...
- ... test for: Citrullinemia and/or prolonged jaundice; or Galactosemia, hypermethionemia, tyrosinemia or hyperphenylalanemia, who on follow-up ... lactose-free therapeutic formulas (for those with secondary galactosemia) and/or medium-chain triglyceride (MCT)-enriched therapeutic ...
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