Which chromosome is affected in galactosemia?

The gene encoding galactose-1-phosphate uridyltransferase (GALT) is located in chromosome 9 (9p13). Galactosemia, caused primarily by GALT deficiency, is an autosomal recessive inborn error of metabolism that has been associated with greater than 100 different mutant genotypes (149).

Is galactosemia a chromosomal disorder?

Galactosemia is an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.

What type of mutation causes galactosemia?

Mutations in the GALT gene cause classic galactosemia (type I). Most of these genetic changes almost completely eliminate the activity of the enzyme produced from the GALT gene, preventing the normal processing of galactose and resulting in the life-threatening signs and symptoms of this disorder.

Which enzyme is deficient in galactosemia?

What causes galactosemia? Classic galactosemia occurs when an enzyme called galactose-1-phosphate uridyltransferase (GALT) is missing or not functional. This liver enzyme is responsible for breaking down galactose (a sugar byproduct of lactose found in breast milk, cow’s milk and other dairy foods) into glucose.

What is the difference between galactosemia and lactose intolerance?

People with galactosemia usually have no problems digesting lactose or absorbing galactose. The problems occur after galactose has entered the blood stream. People who are lactose intolerant must avoid large amounts of lactose in foods but can usually still digest and metabolize galactose.

What problems can galactosemia cause?

Common complications of galactosemia include: liver damage or liver failure. serious bacterial infections. sepsis, which is a life-threatening problem caused by infections.

Can you grow out of galactosemia?

Galactosemia is a lifelong condition that children will not outgrow. However, galactosemia can be easily managed by following a galactose-free diet.

What is the survival rate for galactosemia?

This accumulation of galactose can cause serious complications such as an enlarged liver, kidney failure, cataracts in the eyes or brain damage. If untreated, as many as 75% of infants with galactosemia will die.

What happens if you dont treat galactosemia?

Most untreated children eventually die of liver failure. Surviving babies who remain untreated may have intellectual disabilities and other damage to the brain and nervous system. Even with adequate treatment, individuals with galactosemia may develop one or more of the following: Early cataracts.

What kind of genetic mutations cause galactosemia type I?

Mutations in the GALT gene cause classic galactosemia (type I). Most of these genetic changes almost completely eliminate the activity of the enzyme produced from the GALT gene, preventing the normal processing of galactose and resulting in the life-threatening signs and symptoms of this disorder.

What are the symptoms of galactosemia type 1?

Classic galactosemia (type 1) – the most common and severe type, caused by mutations in the GALT gene, and characterized by a complete deficiency of an enzyme called galactose-1-phosphate uridyl transferase (GALT). Early signs and symptoms include liver dysfunction, susceptibility to infections, failure to thrive, and cataracts.

What happens when Galt is missing in galactosemia?

Classic galactosemia occurs when an enzyme called galactose-1-phosphate uridyltransferase (GALT) is missing or not functional. This liver enzyme is responsible for breaking down galactose (a sugar byproduct of lactose found in breast milk, cow’s milk and other dairy foods) into glucose.

What does it mean to have too much galactose in your blood?

Galactosemia is a family of genetic disorders that result from compromised ability to metabolize the sugar galactose; the term “galactosemia” literally means too much galactose in the blood.