Galactosemia is a genetic disease in which the body is unable to metabolize a food sugar called galactose. This genetically inherited disorder follows an autosomal recessive mode of inheritance. Due to the mutation in a certain gene, there is a deficiency of galactose-1- phosphate uridylyltransferase enzyme (GALT), which is essential for the conversion of galactose to glucose. This deficiency will result in the accumulation of galactose in blood, a condition called classic Galactosemia (a common form of Galactosemia). A less severe form of Galactosemia is due to the deficiency of galactokinase deficiency. The disease can be classified into three different forms. Classic Galactosemia is the most common and severe amongst the three. Galctose-1-phospate, …show more content…
A carrier can only produce less GALT enzyme than a normal child. They can then pass the mutated gene to next generation. A less severe form of this disease is due to galactokinase enzyme deficiency. This results in the defect in the gene
(chromosome 17 encodes for the enzyme). Type 111 Galactosemia is due to the deficiency of another enzyme UDP-galactose-4-epimerase a result of the defect in chromosome 1
(encodes for this enzyme).
SYMPTOMS
An infant with galactosemia appears to be normal at birth. Symptoms can develop in first few days of life soon after the baby drinks breast milk or formula containing lactose.
Symptoms appears can be due to a serious blood infection with Ecoli bacteria. Mostly infants are diagnosed on new born screening. Jaundice (yellowing of skin and whites of the eyes), irritability, lethargy, convulsions, weight loss, hypoglycaemia (low blood sugar level), feeling difficulties, diarrhoea are the some of the early symptoms. Since none of the symptoms are specific to the above condition, often leading to diagnostic delays.
Screening and diagnosis of galactosemia is very simple. Basically a blood or urine test is conducted in order to check the the presence of three enzymes that metabolize …show more content…
The early symptoms include enlarged liver, intellectual disabilities, cataract, cirrhosis, delayed speech development, mental disability, irregular menstrual periods, sepsis, liver failure, ovarian failure, swelling of stomach. Late diagnosis can even cause death in some cases.
Children with galactosemia may have learning difficulties as they have difficulty in processing information. Speech therapy is often recommended to those children with learning difficulties. This disorder can affect the hormonal production and fertility problems in girls which can eventually lead to ovarian failure. Some people confuse galactosemia with lactose intolerance. Lactose intolerance is caused by the reaction of immune system to the protein in milk which is very common but galactosemia is a genetic condition.
Unfortunately, there is no known medication for this rare hereditary disorder. The only way to improve the symptoms from the condition is to follow a strict galactose restricted diet.
Patients diet should exclude all products that contain milk and lactose. Patients must read the product labels of the food items and the medicine carefully before the consumption.It