Prevention of a molecular misdiagnosis in galactosemia
نویسندگان
چکیده
منابع مشابه
CEREBRAL EDEMA: A RARE COMPLICATION IN GALACTOSEMIA
A 34 day-old girl infant was admitted for poor feeding and cholestasis. She had a bulging fontanelle, with no evidence of intracranial infection or hemorrhage. Investigations demonstrated that she had galactosemia. Computed tomographic scans demonstrated the presence of diffuse cerebral edema. After treatment the edema resolved.
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Galactosemia is an autosomal recessive disorder of Galactose metabolism, characterized by inability to metabolize galactose. Three enzymes are principally involved in the metabolic conversion of galactose to glucose: a galactose specific kinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate galactose-4-epimerase (GALE). On the basis of defective enzyme the disea...
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15 صفحه اولClinical, molecular, and genetic evaluation of galactosemia in Turkish children.
AIM Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2006
ISSN: 1098-3600,1530-0366
DOI: 10.1097/01.gim.0000204019.54509.40