Galactosemia

Overview

All typical carbohydrate metabolism diseases are caused by a specific enzyme deficiency. Almost all of these enzyme deficiencies are inherited as autosomal recessive traits. These metabolic disorders may be divided into three categories based on how they affect glycogen, galactose, and fructose metabolism.

A change in galactose metabolism caused by a lack of activity in one of three enzymes leads in an increase in blood galactose concentration (galactosemia). The most frequent and severe kind is classic galactosemia, which is characterized by a total lack of galactose-1-phosphate uridyl transferase (GALT). 

Early signs and symptoms, such as liver dysfunction, susceptibility to infections, failure to thrive, and cataracts, can be avoided or reduced with early diagnosis and treatment, but individuals might still suffer from persistent and progressive neuropsychiatric deficits. The measurement of enzyme activity in red blood cells is required for diagnosis.