Galactosemia in Newborns

Introduction:

Galactosemia is an inherited condition passed down from parents to children in which the body cannot metabolize galactose. Galactose is a dietary sugar found in milk and milk products. If both parents suffer from galactosemia, the child's chances of galactosemia increase by twenty-five percent. The dietary source of galactose is lactose, a carbohydrate found in milk. A child suffering from galactosemia is unable to break down the sugar galactose. If the infant suffers from this condition, galactose in milk can damage the child's brain, eyes, and kidneys. Parents should be careful because the child's body cannot tolerate galactose.

What Is Galactosemia?

Galactosemia is a rare metabolic condition in which a child cannot process galactose sugar in breast milk and formula. As a result, it is not turned into energy and can cause various complications if left untreated. Lactose is one of the principal sugars found in milk and milk formula. Lactose is formed by galactose and glucose; therefore, a child suffering from galactosemia cannot consume milk and dairy products. There is a very high level of galactose in children suffering from galactosemia.

How Is Galactosemia Inherited?

The condition is inherited in an autosomal recessive manner. This means that there are mutations in both copies of the gene in each cell. Each parent of a person with an autosomal recessive disorder has one copy of the mutated gene, but usually, they do not show signs or symptoms of the disease.

What Are the Causes of Galactosemia?

Galactosemia is a genetic disorder in which the gene responsible for galactose metabolism mutates. There is a mutation of the GALE, GALK1, and GALT genes. These genes are inherited from the parents. Due to the gene mutation, the child cannot metabolize galactose, which builds up in the infant system. The following are the causes of galactosemia:

• Deficiency of the galactose-1phosphate uridyl transferase.

• Deficiency of the galactose kinase enzyme.

• Deficiency of galactose-6 phosphatase epimerase.

What Are the Types of Galactosemia?

Listed below are the three types of galactosemia:

Classic Galactosemia - The GALT gene causes it. It is a milder form of galactosemia. The mutation in the gene prevents the normal processing of galactose. It is also known as the durate variant. It reduces enzyme activity by 75 %.

Galactosemia Type Two - It is also known as galactose insufficiency. It is caused by a mutation in the GALK 1 gene.

Galactosemia Type Three - It is also known as galactose epimerase insufficiency. It is caused by a mutation in the GALE gene.

What Are the Clinical Features of Galactosemia?

Infants develop signs and symptoms of galactosemia within the first few days of their life if they consume the lactose in breast milk or formula milk.

Initial Signs:

• The child refuses to eat.

• The child is unable to feed properly.

• The child appears to be fussy and irritable.

• Blood infection.

• Frequent vomiting.

• Jaundice.

• The child is lazy.

• Eye disorder.

• Cloudy eye lenses.

• Low blood sugar, known as hypoglycemia.

• Enlarged liver, known as hepatomegaly.

• Seizures.

Advanced Stage:

Learning Disability:

• There is a delay in language acquisition.

• The child suffers from speaking difficulty.

• The child suffers from fine and gross motor skills.

Neurological Impairment:

• The child feels difficulty walking.

• There is difficulty in coordination in voluntary movements, known as ataxia.

• There is a presence of fine tremors.

• The inaccurate estimation of distance during muscular activity is present, known as dysmetria.

Ovarian Failure:

• Severe galactosemia causes premature ovarian insufficiency, releasing eggs earlier than usual.

• There is premature loss of ovarian function, resembling early menopause.

What Are the Complications of Galactosemia?

Listed below are the complications associated with galactosemia:

• Brain damage.

• Liver damage.

• Kidney damage.

• Ataxia (lack of coordination).

• Dysmetria (inability to judge distance and direction).

• Diminished bone density.

• Hepatic damage.

• Cataracts.

How Is Galactosemia Diagnosed?

The diagnosis of galactosemia is based on medical history, family history, and laboratory investigations. Newborn screening is indicated to diagnose galactosemia. Blood investigation and urine investigation are done to examine the level of galactose. Genetic testing is indicated for the evaluation of disorders in fetuses. The amniotic fluid sample is evaluated to determine the exact type of gene mutation in infants.

What Are the Treatment Plans for Galactosemia?

The major goal of the treatment plan is to reduce the galactose content, as untreated galactosemia can result in organ failure and intellectual disability in the child. Replacements, such as the soya formula, can be used. If early treatment is not facilitated, newborns will see sepsis due to Escherichia coli. Therefore, a lactose-restricted diet is provided for ten days after the symptoms are noted, and the children must have close dietary supervision and monitoring.

What Are the Dietary Restrictions of Galactosemia?

Galactosemia is a lifelong condition. Therefore, it is essential to follow the galactose-free diet plan. Food containing complex sugar is strictly avoided. The following dietary ingredients should be strictly avoided.

• Butter.

• Milk.

• Food containing casein protein.

• Dry milk products.

• Curd.

• Cottage cheese.

• Ice cream.

• Milk chocolate.

• Puddings.

• Yogurt.

• Sour cream.

• Sherbet.

• Garbanzo beans.

• Organ meats.

Conclusion:

It is an autosomal recessive disorder passed from parents to a child. Early diagnosis and treatment help in improving health and preventing complications. Proper health examination and assessment of the growth and development of the child should be monitored. Eye examination and measurement of galactase level in blood should be done. Parents should be cautious about the dietary restrictions of their children in such cases.