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Galactosemia: Definition, Symptoms & Treatment - Cleveland Clinic
2022年8月25日 · What are the different types of galactosemia? Type I (Classic) The classic version of galactosemia, which is also called type I, is the most common and also the most …
Types of Galactosemia
Three types of epimerase deficiency exist: generalized, intermediate, and peripheral. Generalized epimerase deficiency is like classic galactosemia in terms of severity. As with galactosemia …
Galactosemia - Boston Children's Hospital
Are there different types of galactosemia? Three types of galactosemia have been identified. They are caused by a mutation in the GALE, GALK1, and GALT genes. These three genes are …
Galactosemia - Wikipedia
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an …
Classic Galactosemia and Clinical Variant Galactosemia
2000年2月4日 · Galactosemia caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT) may be divided into three clinical/biochemical phenotypes: (1) …
Galactosemia: Biochemistry, Molecular Genetics, Newborn …
Galactosemia is a rare hereditary disease of galactose metabolism that affects the organism’s ability to convert this sugar, mainly contained in milk, into glucose. There are four types of …
Galactosemia: MedlinePlus Genetics
Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down …
Galactosemia | About the Disease | GARD - Genetic and Rare …
Galactosemia, which means 'galactose in the blood,' refers to a group of inherited disorders that impair the body's ability to process and produce energy from a sugar called galactose. When …
Galactosemia: Symptoms, Causes, Diagnosis, Treatment - WebMD
2023年9月4日 · There are three main types of galactosemia: Classic (type I) Galactokinase deficiency (type II) Galactose epimerase deficiency (type III) Type I occurs in about 1 in every …
GALACTOSEMIA (GALACTOSE INTOLERANCE): CAUSES, …
2024年11月12日 · Types and Causes of Galactosemia. A deficiency in one of the enzymes that break down galactose into glucose, which the body can use for energy, causes galactosemia. …