GALACTOSEMIA

Galactosemia is a disease that impacts how the cells work galactose, a form of sugar. Many meals contain a tiny quantity of galactose. It’s primarily lactose, a sugar found in many dairy products and infant formulas.

With this metabolic disorder, babies do not assimilate a specific galactose located predominantly in milk products. When fed with milk, galactose-derived chemicals build up in the baby’s system. The kidneys, brain, eyes, and liver are all affected by these toxins. Galactose accumulates in high concentrations in the tissues and blood when it cannot be broken down and digested. Its by-products also accumulate in enormous quantities.

TYPES

The types of galactosemia are in charge of producing all of the enzymes needed to break down (metabolize) galactose. Galactosemia is divided into three types:

  • Type I (Classic)
  • Type II (Galactokinase deficiency)
  • Type III (Galactose epimerase deficiency)

Type I disease affects around one in every 30,000 to 60,000 people.

SYMPTOMS

Your infant will seem shortly after birth if they have typical galactosemia. Symptoms appear just several days after they start drinking breast milk or formula containing lactose, a type of sugar that includes galactose. The following symptoms include:

  • Appetite loss
  • Vomiting 
  • Jaundice
  • Cataracts
  • Diarrhea
  • Extreme weight loss
  • Irritability
  • Convulsions
  • Lethargy
  • Poor feeding

So, if your baby exhibits any of the symptoms listed above, consult your doctor.

DIAGNOSIS

Galactosemia and other metabolic diseases might be challenging to identify since the disease’s clinical indicators aren’t always evident at birth. Prenatal testing is a diagnostic process created to detect disorders like these in babies. The earlier these abnormalities are discovered, the less probable a kid may have long-term issues or irreparable effects. 

TREATMENT

If not treated quickly, galactosemia, which is detrimental to the body, can be fatal. You can only treat it by avoiding lactose and galactose foods. Your child’s adjusted food plan will be determined by a physician and a nutritionist specializing in metabolic disorders. People with galactosemia should avoid the following foods:

Galactosemia requires a person to avoid all milk and dairy products, including:

  • curds
  • cheese
  • butter
  • milk from a cow
  • yogurt
  • ice cream
  • casein
  • whey

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