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About galt deficiency

What is galt deficiency?

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process.

Galactosemia may also be referred to as classic galactosemia because a few variants of the gene for galactosemia have been identified. One variant causes a milder form of the disorder known as Duarte galactosemia. Classic galactosemia is the most severe form.

Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is absolutely essential to avoid serious lifelong disability.

What are the symptoms for galt deficiency?

Accumulation of galactose in other parts of the body symptom was found in the galt deficiency condition

GALT deficiency/Galactosemia is a rare genetic disorder that affects how your body processes or metabolizes a sugar called galactose.

Signs and symptoms include:

  • An infant affected with galactosemia, appears normal at birth; however, within a few days or weeks, the infant may lose its appetite and start Vomiting excessively.
  • Yellowing of the skin, and mucous membranes, and whites of the eyes (jaundice), the appearance of amino acids and protein in the urine, enlargement of the liver (hepatomegaly), growth failure, accumulation of fluid in the abdominal cavity, and abdominal swelling (edema) may also occur.
  • Other early signs of galactosemia include Diarrhea, Lethargy, Irritability, and bacterial infections.
  • Over time, Weakness and extreme Weight loss occur unless lactose is removed from the diet.
  • Children affected with galactosemia who have not received early treatment may show symptoms of arrested physical and mental development. They are also susceptible to cataracts in infancy or childhood.
  • Children treated with this special diet may still experience complications. Speech and learning difficulties and some behavioral problems are still likely to occur.
  • Women affected with galactosemia may suffer from ovarian impairment and an increase in the blood level of the gonadotropin hormone, follicle-stimulating hormone (FSH); males with galactosemia do not usually exhibit abnormalities in gonadal function.


Conditions
Hepatomegaly is a condition of liver enlargement,Decrease in blood sugar level,Presence of amino acids in urine,Accumulation of galactose in other parts of the body
Drugs
There is no medication for GALT deficiency, however, a low-galactose diet can add to its precaution to some extent
Symptoms
Cataracts in infants,Delay in growth and development,Intellectual disability,Kidney and liver problems

What are the causes for galt deficiency?

GALT deficiency/Galactosemia is a rare genetic disorder that affects how your body processes or metabolizes a sugar called galactose.

Signs and symptoms include:

  • An infant affected with galactosemia, appears normal at birth; however, within a few days or weeks, the infant may lose its appetite and start vomiting excessively.
  • Yellowing of the skin, and mucous membranes, and whites of the eyes (jaundice), the appearance of amino acids and protein in the urine, enlargement of the liver (hepatomegaly), growth failure, accumulation of fluid in the abdominal cavity, and abdominal swelling (edema) may also occur.
  • Other early signs of galactosemia include diarrhea, lethargy, irritability, and bacterial infections.
  • Over time, weakness and extreme weight loss occur unless lactose is removed from the diet.
  • Children affected with galactosemia who have not received early treatment may show symptoms of arrested physical and mental development. They are also susceptible to cataracts in infancy or childhood.
  • Children treated with this special diet may still experience complications. Speech and learning difficulties and some behavioral problems are still likely to occur.
  • Women affected with galactosemia may suffer from ovarian impairment and an increase in the blood level of the gonadotropin hormone, follicle-stimulating hormone (FSH); males with galactosemia do not usually exhibit abnormalities in gonadal function.


Conditions
Hepatomegaly is a condition of liver enlargement,Decrease in blood sugar level,Presence of amino acids in urine,Accumulation of galactose in other parts of the body
Drugs
There is no medication for GALT deficiency, however, a low-galactose diet can add to its precaution to some extent
Symptoms
Cataracts in infants,Delay in growth and development,Intellectual disability,Kidney and liver problems

What are the treatments for galt deficiency?

GALT deficiency/Galactosemia is a rare genetic disorder that affects how your body processes or metabolizes a sugar called galactose. There is no cure for galactosemia or approved medication to replace the enzymes.

Diagnosis:
GALT deficiency is usually diagnosed through tests that are done as part of newborn screening programs. A blood test will detect high levels of galactose and low levels of enzyme activity.

Treatment:

  • A low-galactose diet which means avoiding milk and other foods that contain lactose or galactose is the most common treatment for galactosemia.
  • Avoid foods with lactose like milk, butter, cheese, ice cream, and other dairy products.
  • Replace lactose-rich foods with dairy-free alternatives, like almond or soy milk, sorbet, or coconut oil.
  • However, the condition or risk cannot be stopped or reduced completely with just a low-galactose diet.
  • If treated early, however, a significant proportion of infants can go on to lead an almost normal life.
  • Problems like behavioral disorders, speech defects, and learning disabilities may still occur.
  • In infants with galactosemia type II, cataracts that develop as a complication of the disease can be completely prevented if the galactose-free diet is followed.
  • Genetic counseling and hormone replacement therapy may also be recommended. Galactosemia can affect puberty, so hormone replacement therapy may help.


Conditions
Hepatomegaly is a condition of liver enlargement,Decrease in blood sugar level,Presence of amino acids in urine,Accumulation of galactose in other parts of the body
Drugs
There is no medication for GALT deficiency, however, a low-galactose diet can add to its precaution to some extent
Symptoms
Cataracts in infants,Delay in growth and development,Intellectual disability,Kidney and liver problems

What are the risk factors for galt deficiency?

GALT generally refers to a gene responsible for producing an enzyme called galactose-1-phosphate uridylyltransferase. It is one such enzyme that is responsible for processing galactose in foods that are consumed in a small amount.

Deficiency of these GALT enzymes leads to Galactosemia/GALT deficiency, a situation that disrupts the GALT gene, eventually resulting in the accumulation of galactose chemicals in different organs of the human body, diagnosed in 1 in 30,000 newborns every year.

Below are the risk factors associated with GALT deficiency:

  • Untreated Galt deficiency can result in blood infection, leading to death.
  • Brain damage is another risk factor associated with Galactosemia.
  • Some infants might also develop cataracts and liver disease when untreated with precautionary measures.
  • When newborns are fed milk while suffering from gallbladder disease, they may experience irritability, vomiting, jaundice, and lethargy.
  • Speech problems
  • Intellectual disabilities are observed to result in delays in learning.
  • unsteady gait observed at an early age.


Hereditarily, the GALT deficiency in babies arises in two conditions:

  • A child inherits one non-working GALT gene from each parent.
  • Inheriting the gene from both parents, who are the carriers. In this case, the child has a 50% chance of serving as a carrier.


Conditions
Hepatomegaly is a condition of liver enlargement,Decrease in blood sugar level,Presence of amino acids in urine,Accumulation of galactose in other parts of the body
Drugs
There is no medication for GALT deficiency, however, a low-galactose diet can add to its precaution to some extent
Symptoms
Cataracts in infants,Delay in growth and development,Intellectual disability,Kidney and liver problems

Is there a cure/medications for galt deficiency?

GALT deficiency caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT) is a deficiency that is rarely found among newborns and is inherent.

  • Until today, no cure or medication has ever been found for GALT deficiency.
  • However, there are a few measures to reduce the complications involved, such as following a low-galactose diet.
  • By doing so, one can reduce the future complications associated with GALT deficiency.


The low-galactose diet must exclude the following:

  • Breast Milk: Breast milk for infants must be replaced by other formula milk that is prescribed by the doctor. Soy milk is another option to replace breast milk for infants and newborns.
  • Dairy products: Products such as cow’s milk, cheese, ice cream, whip cream, and yogurt should be decreased in the diet as much as possible.
  • Products that use dairy products as ingredients, like salads, custards, puddings, etc., are to be excluded from the diet.
  • Foods that need to be included in the diet are fruits, vegetables, legumes, grains, and foods containing starch, meat, seafood, beverages, oil, etc.
  • Apart from all of the above-mentioned diet requirements, adding the right products of Vitamin C and D into the diet plan is, to some extent, a good option for increasing bone and mineral density, which helps in reducing GALT complications.


Conditions
Hepatomegaly is a condition of liver enlargement,Decrease in blood sugar level,Presence of amino acids in urine,Accumulation of galactose in other parts of the body
Drugs
There is no medication for GALT deficiency, however, a low-galactose diet can add to its precaution to some extent
Symptoms
Cataracts in infants,Delay in growth and development,Intellectual disability,Kidney and liver problems

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