GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE DEFICIENCY

Overview and Facts

Galactose-1-phosphate Uridyl Transferase Deficiency is an uncommon carbohydrate metabolic disease which hinders the body’s capacity to transform galactose to glucose. If your kid has this disease, it implies that critical portions of the genes that make the enzymes that break down galactose into glucose are missing. The genes can’t instruct the enzymes what to perform if they don’t have these components. As a result, galactose builds up in the bloodstream, causing difficulties, particularly in infants.

Types and Symptoms

TYPES

There are three kinds of galactose-1-phosphate uridyl transferase deficiency. These may include:

  • Classic or type I
  • Galactokinase deficiency or type II
  • Galactose epimerase deficiency or type III

About 1 in every 30,000 to 60,000 individuals has Type I. Types II and III have a lower prevalence in children.

You and your spouse may be genetically tested for galactosemia as a parent or prospective parent. You don’t have to avoid galactose just because you’re a carrier. It does, however, imply that you may transmit galactosemia to your offspring.

SYMPTOMS

Your baby will look normal at birth if they have a typical genetic condition. Symptoms appear a few days after they start drinking breast milk or formula containing lactose, a milk sugar that includes galactose.

Moreover, your infant loses his or her appetite and begins to vomit. Then, they develop jaundice. Diarrhea is also quite prevalent. Your kid will struggle to develop and flourish as a result of the illness, which causes significant weight loss.

Diagnosis & Medications

DIAGNOSIS

Galactose-1-phosphate uridyl transferase deficiency is most often detected via tests performed as part of newborn screening programs. High amounts of galactose and poor enzyme activity may be detected via blood tests. Also, for newborn babies, pricking the heel is the primary way of collecting blood.

In addition, urine tests may also help in diagnosing. Since this condition is genetic, genetic testing may also be suggested. 

TREATMENT

Although there is no cure for the disease, the following treatments may aid in the treatment of underlying conditions:

Low-galactose diet. This implies that milk and other lactose or galactose-containing foods are off-limits.

Speech therapy. Speech delays are often linked with the condition.

Antibiotic treatments. The disease raises infection. Hence, it’s critical to manage infections as soon as they arise.

Genetic counseling and hormone replacement therapy. The disease may influence a child’s puberty stage, which is why there is a need for therapy.

Related Articles

TETRALOGY OF FALLOT

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Tetralogy of Fallot is a congenital heart defect that affects the [...]

TRICHINOSIS

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Trichinosis, also known as trichinellosis, is a parasitic infection caused by [...]

TRIGEMINAL NEURALGIA

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Trigeminal neuralgia is a neurological condition characterized by severe facial pain. [...]