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Galactokinase deficiency is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. [2] The disorder is caused by mutations in the GALK1 gene, located on chromosome 17q24. [1]
Galactokinase deficiency, also known as galactosemia type II, is a recessive metabolic disorder caused by a mutation in human galactokinase. About 20 mutations have been identified that cause galactosemia type II, the main symptom of which is early onset cataracts.
Many of the negative effects of galactosemia have been attributed to accumulation of galactitol, and high concentrations of galactitol have been found in people with classic galactosemia (GALT deficiency or galactose-1-phosphate uridylyltransferase deficiency), galactokinase deficiency, and epimerase deficiency with glucose. [citation needed]
GALE deficiency is an extremely rare, autosomal recessive disease that appears to be most common among the Japanese population (1 in 23,000 live births among Japanese population). [5] While the link between GALE deficiency and cataract prevalence seems to be ambiguous, experiments on this topic have been conducted.
On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency. Further analysis of metabolites and enzyme activities are needed to identify the ...
A milder form of galactosemia, called Galactokinase deficiency, is caused a lack of the enzyme uridine diphosphate galactose-4-epimerase which breaks down a byproduct of galactose. This type of is associated with cataracts, but does not cause growth failure, mental retardation, or hepatic disease.
The last image we have of Patrick Cagey is of his first moments as a free man. He has just walked out of a 30-day drug treatment center in Georgetown, Kentucky, dressed in gym clothes and carrying a Nike duffel bag.
Carnitine/acylcarnitine Translocase Deficiency (Translocase) [1] Short-chain hydroxy Acyl-CoA dehydrogenase deficiency (SCHAD) Long-chain acyl-CoA dehydrogenase deficiency (LCAD) Multiple acyl-CoA dehydrogenase deficiency (MADD) Miscellaneous multisystem diseases. Galactokinase deficiency [1] Galactose epimerase deficiency [1] Maternal vitamin ...
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