Galactosaemia : a new severe variant due to uridine diphosphate galactose - 4 - epimerase deficiency
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چکیده
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منابع مشابه
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction...
متن کاملGeneralised uridine diphosphate galactose-4-epimerase deficiency.
The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness...
متن کاملGalactosemia : A Genetic Disease of Leloir Pathway
Galactosemia is a genetic disorder which causes inability to metabolize galactose in the body. Our body converts galactose into glycolytic intermediate by Leloir pathway. Galactosemia is caused by the mutation in the gene encoding enzymes of Leloir pathway or non-functioning of these enzymes. Types of galactosemia are due to different enzyme deficiencies. Type I is for GALT (galactose-1-phospha...
متن کاملTopic Page: Galactosemia
Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classical galactosemia), galactokinase (GALK), or UDP-galactose-4 epimerase (GALE). Of the three, GALT deficiency is the most severe and results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary, and kidney. In GALK deficiency, ingested ga...
متن کاملTopic Page: Galactosemia
Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classical galactosemia), galactokinase (GALK), or UDP-galactose-4 epimerase (GALE). Of the three, GALT deficiency is the most severe and results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary, and kidney. In GALK deficiency, ingested ga...
متن کامل