Galactosemia

There are many common types of diseases in life, and the choice of treatment methods is critical, especially for some unfamiliar diseases, which require a good treatment method. So what is galactosemia? Many people are not very clear about this. This type of disease is not very common. When treating this type of disease, it is also necessary to choose appropriate methods to improve the patient's condition.

When treating galactosemia, it is important to have a good understanding of the symptoms, causes, and factors of this type of disease. This way, when treating it, you will know how to best treat it and improve the disease.

Galactosemia:

Galactosemia is a toxic clinical metabolic syndrome with increased blood galactose. Inborn errors of any of the three enzymes involved in galactose metabolism can cause galactosemia.

Galactosemia is an autosomal recessive congenital metabolic disease. In heterozygotes, the activities of the three related enzymes of galactose metabolism are about 1/2 of those of normal people, while in homozygotes the enzyme activities are significantly reduced. The gene loci that control the above three enzymes are now clear: uridyl transferase is on the short arm of chromosome 9, galactokinase is on the long arm of chromosome 17, and galactose-epimerase is on chromosome 1.

Clinical manifestations

There are many regional variants of galactose-1-phosphate uridyltransferase, and the degree of involvement of the enzyme activity varies. The enzyme protein molecules show different swimming speeds in electrophoresis, which helps to identify the type. There are fewer variant forms of galactokinase, and the clinical manifestations of galactosemia vary greatly depending on the type and course of the disease. Mild cases may have no clinical symptoms, while the most severe cases present with an fulminant course.

1. Acute course

Most children will refuse milk, vomit, experience nausea, diarrhea, poor weight gain, liver enlargement, jaundice, abdominal distension, hypoglycemia, and proteinuria a few days after birth because of the galactose contained in breast milk or artificial feeding. Those with the above symptoms should be considered to have galactosemia and should undergo relevant laboratory tests immediately. If it can be detected in time and appropriate measures can be taken, cataracts and mental developmental disorders may not occur quickly.

2. Mild course

There are usually no acute symptoms, but with age, dysphonia, cataracts, intellectual disability and cirrhosis of the liver gradually appear.

Through the above introduction, we have a good understanding of galactosemia, so when treating such a disease, it must be timely. This type of disease can induce a variety of diseases, so when treating such a disease, we must choose the correct treatment method, which will be of great help in stabilizing the patient's disease.