Galactosemia

Question 1

What is galactose?

Answer 1

Galactose component of dietary sugars. It is converted to glucose to energy storage (glycogen) and energy production.

Question 2

What genetic trait does Galactosemia have?

Answer 2

Autosomal Recessive

Question 3

Type 1 of Galactosemia, known as the classic Galactosemia or most common and severe disorder?

Answer 3

Galactose-1-phosphate uridytransferase (GALT) | Chromosome 9

Question 4

Type II of Galactosemia, total of 1 in 100, 000 newborns?

Answer 4

Galactokinase 1 (GALK1) | Chromosome 17

Question 5

Type III of Galactosemia, known as the very rare disorder that can cause symptoms vary from mild to severe?

Answer 5

UPD-Galactose-4-Epimerase Deficiency (GALE) | Chromosome 1

Question 6

What is the treatment for Galactosemia?

Answer 6

To eliminate lactose and galactose from diet

Question 7

It is a disorder that affects how the body processes Galactose?

Answer 7

Galactosemia

Question 8

How is the galactose processed?

Answer 8

It is converted to glucose for energy storage (glycogen) and energy production.

Question 9

What are the effects of early manifestation of Galactosemia?

Answer 9

• Poor suck
• Vomiting, Occasionally, and Diarrhea
• Jaundice
• Lethargy, Weakness, and Coma
• Septicemia (E. coli)

Question 10

What are the effects of late manifestation of Galactosemia?

Answer 10

• Liver: Hepatomegaly, Edema, Ascites, and Cirrhosis
• Lens: Cataracts
• Brain: Mental Retardation
• Kidney
• Growth Failure