Galactokinase deficiency

Galactokinase deficiency is a rare genetic disorder that affects an individual's ability to properly break down the sugar galactose. The condition is characterized by an inability to convert galactose to glucose, leading to an accumulation of galactose in the blood.

Pronunciation

Galactokinase deficiency is pronounced as ga-lak-toh-kih-nase de-fish-en-see.

Etymology

The term "Galactokinase deficiency" is derived from the Greek word "galaktos" meaning milk, and "kinase" which refers to an enzyme that catalyzes the transfer of phosphate groups from high-energy, phosphate-donating molecules to specific substrates. "Deficiency" comes from the Latin word "deficientia" meaning lacking.

Symptoms

The symptoms of Galactokinase deficiency can vary greatly among affected individuals. They may include cataracts, jaundice, vomiting, liver disease, and failure to thrive.

Causes

Galactokinase deficiency is caused by mutations in the GALK1 gene. This gene provides instructions for making an enzyme called galactokinase, which is important for breaking down galactose.

Diagnosis

Diagnosis of Galactokinase deficiency is typically made through a blood test that measures the level of galactose in the blood. Genetic testing can also be used to identify mutations in the GALK1 gene.

Treatment

There is currently no cure for Galactokinase deficiency. Treatment typically involves a diet low in galactose.

Related Terms

• Galactosemia
• GALK1 gene
• Genetic disorder
• Enzyme
• Mutation

External links

• Medical encyclopedia article on Galactokinase deficiency
• Wikipedia's article - Galactokinase deficiency

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