Galactosemia – causes, Types, symptoms, diagnosis, treatment

Galactosemia is the combination of two words which means galactose and blood. This disease was firstly described by Friedrich Goeppert in 1917 than it was identified by Herman Kelkar. Galactosemia is a disorder by which the blood glucose level rises. It is caused by disorders that are inherited due to mutations.

This condition is rare to be inherited genetically. It is caused by the mutation of the GALT gene of individuals. GLAT is a gene that has instructions about the growth and functions of the body. Galactosemia is an exceptional genetic disease that influences the metabolic activity of individuals to convert sugar into glucose into galactose appropriately.

 It occurred due to autosomal excessiveness. In this condition, the child’s parent is a silent carrier of this disease but it is expressed in the child. It occurs due to a condition in which the lactose id fails to break in glucose and galactose. People suffering from galactosemia cannot break the galactose. Galactose starts to accumulate in the brain, eyes, liver, and kidney instead of providing energy to the body. It can cause serious health issues.

An autosomal recessive manner of inheritance refers to galactosemia that converts enzyme deficiency which is liable for sufficient glucose deterioration. All food contains a large quantity of galactose. Mainly it is the large sugar part which is known as lactose, it is a major part of dairy consequences and baby nourishing recipes.


All dairy and milk products are the major sources of galactose that should be metabolized into simple sugars or glucose for proper absorption through the intestine. If this process does not take place properly the reason behind this disorder is a mutation in enzymes that are responsible for the metabolism and which is inherited genetically. Chemically it occurs due to the high deposition of galactose and other similar sugars in the organ tissues and fluid.

Phenomena of galactose accumulation

This process includes two types of reactions

  1.     Reduction of galactose to galactitol
  2.     Oxidation of galactitol into gluconate

 What are Types of galactosemia

Scientist sorted of mainly 4 galactosemia types

  • Clinical variant and classical galactosemia or type 1
  • Deficiency of galactokinase or type 2
  • Deficiency of epimerase or type 3
  • Variant of classic galactosemia 

 The symptoms of galactosemia occur after many days or weeks after birth. Resulting classic galactosemia following symptoms may arise, Jaundice, hepatomegaly (liver enlargement), renal failure of galactosemia, deprivation of predilection, is inherited autosomal recessive mode.

Content children inherit imperfect genes from each progenitrix to demonstrate disease. Heterozygotes are porters of defective genes because they inherit one flaw with one normal gene. There’s no galactosemia symptom shown by the bearer.


It is found in 1 in 30000 to 60000 in newborn babies. Type 2 and type 3 are the least frequent but class I affects less than type II; its frequency is 1 in 10,000 and type III is less common. This condition is mostly found in those people that belong to ancestors from Ireland and the natives of Africa which are now living in America.

Inheritance patterns

The inheritance pattern of this condition is an autosomal recessive. In this way, both genes in each inherited cell are those which have mutations. So, this means that the infected person’s parents in this recessive pattern, both have a copy of the mutated gene, but they don’t show the sign and symptoms.

There are 25% chances that children have both copies of abnormal genes. But the parents which are already affected by galactosemia have a 50% chance to have a child which will be affected by galactosemia and a 25% chance to have a child who will be non-carrier. Both males and females are equally affected by this disorder.

What are Causes of galactosemia

This occurs due to mutations in genes called GALT, GALK, and GALE.  These genes are necessary for information that is required to process galactose from the diet. These genes break the galactose into simple sugars that a body can store for energy. Lactose found in dairy products is split by the enzyme lactose. Individual leading galactosemia lacks enzymes required for metabolizing galactose (Galactokinase and Galactose 1-phosphate).

 Alteration in galactose and galactokinase-1 gene origin galactosemia. The following genes contribute to assembling enzymes that are necessary for galactose proceeding which acquires from diet-related to dairy products. All the genetic alterations almost entirely exclude the action of enzymes which arise from the gene of galactose.

 Standard galactose arises by the transformation in the galactokinase-1 gene. Scarcity of any of these carping enzymes acknowledges galactose associated formulation to raise toxic flush in the patient body. Increases in these compounds level harm the different body parts and pile, paramount the symptoms attribute of galactosemia. 

What are Symptoms of galactosemia

The infant suffering from galactosemia appears normal at birth when it starts feeding on milk symptoms of galactosemia starts to appear. Sometimes the symptoms are severe if left untreated. In the early stages some signs such as feeding problems, poor sucking may appear. Other symptoms include poor immunity, coagulation process, and hypoglycemia. 


Different types of complications can happen if galactosemia is not diagnosed at the right time. Accumulation of sugars in the blood is dangerous. Without diagnoses, it may be life-threatening in a newborn.

  • Complications may include
  • Bacterial infections
  • Abnormal or delayed development
  • Learning problems
  • Difficulties in fine motor
  • Mineral deficiency in bones
  • Problems in the reproductive system
  • Speaking problems
  • Mental retardation
  • Lower IQ
  • Enlargement of liver and spleen
  • Swelling of stomach

It also affects the ovaries in females and ovaries stop their functioning and affect the fertility of women. This happens before the age of 40. Some symptoms which affect the ovaries working at an early-stage act just like menopause.

There are some long-term complications which include neurological impairments and cataracts.

What is Diagnosis of galactosemia

The infant suffered from galactosemia screened as symptoms, vomiting, Jaundice diarrhea, etc. These mentioned symptoms are not strongly specific to this condition and it may lead to delay in diagnosing. Diagnosis of this disease can also be done before the birth of the baby by testing the fluid which is taken around the fetus.

Diagnosis is done by a screening of newborns or NBS. Affected children may have some untreatable effects which may even cause death. So, newborns should be tested by NBS without delay. The NBS should be done in routine and two tests should be done to diagnose the galactosemia Hill test and Beutler’s test. Beutler’s test is used to detect the level of enzymes in infants. The NBS should be done before any insertion of galactose or any sugar in infants for more accuracy.

 All the following symptoms are not only dedicated to galactosemia only. Galactosemia may be diagnosed by urine and blood tests to examine and check enzyme (galactose) availability required to galactose sugar. Blood is taken by pricking the newborn’s heel. Recognition of galactosemia is predominantly identified by an analysis that takes place as a division of fresh-born partition description.

1-High galactose flush indicates less action of an enzyme and proper conversion of lactose to glucose.

2- The second step is urine analysis which is done to recognize the following situation of galactosemia.

3- Genetic analysis may assist to recognize galactosemia. Genetic testing is done on the amniotic fluid sample. This testing is used to know the exact type of GALT gene mutations.

What is Treatment of galactosemia

Treatment which is most effective for this disease is to prevent that diet that does not contain any galactose and lactose content. To handle galactosemia the most ordinary method is square-galactose nourishment. Meaning that milk and other dairy products rich in lactose and galactose should not be given to newborn galactosemia patients.

And there is no proper treatment to control galactosemia or authorized prescription to substitute enzymes. The only known treatment for the classical form of galactosemia is to take a balanced free diet. Lactose and galactose free diet should be used by patients of galactosemia.If a child has a speech problem due to galactosemia then it may be treated by speech therapy.

 Galactosemia also increases the risk of infection so this kind of problem is cured by antibiotics. Education sessions should be held to overcome the difficulties in learning.  Physical therapy is useful which improves muscle strength and increases the working ability of a child.

Behavioral therapy is another option to improve the condition of a child. It is helpful in managing the emotions and behavior of affected children. Genetic consistory and hormone changing remedy perhaps suggested

How we can Prevent galactosemia

Food that contains milk and dairy products should be avoided such as milk, butter, yogurt, cheese, and ice-cream, etc.

Galactose free diet should be provided to children. Protein-rich food should be used such as meat and eggs. Calcium supplements can also be used to fulfill the deficiency of calcium.

Leave a Comment