GALACTOKINASE

GALACTOKINASE

Galactokinase is an enzyme that functions in the metabolism of galactose to glucose in the liver, a deficiency of which may result in galactosemia. Galactokinase deficiency is one of three forms of galactosemia, an autosomal recessively transmitted inborn error of metabolism located on chromosome 9p13 and characterised by the inability to convert galactose into glucose with mutations found in the GALK1 gene. This form of galactosemia results in the appearance of infantile or childhood cataracts and long-term complications of speech disorders, mental retardation, ataxia, and (in females) hypogonadotropic hypogonadism. 

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Genomic Medicine UK is the home of comprehensive genomic testing in London. Our consultant medical doctors work tirelessly to provide the highest standards of medical laboratory testing for personalised medical treatments, genomic risk assessments for common diseases and genomic risk assessment for cancers at an affordable cost for everybody. We use state-of-the-art modern technologies of next-generation sequencing and DNA chip microarray to provide all of our patients and partner doctors with a reliable, evidence-based, thorough and valuable medical service.

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