Topics in Genetic Counseling - Galactosemia

How many major galactose metabolism enzymes are present in the human genome?

• 1

• 2

• 3

• 4

The first enzyme in the galactosemia pathway is GALK which performs what biochemical function?

• adds a UDP group

• adds a phosphate to galactose

• removes a UDP group

• removes a phosphate from galactose

Deficiency in the GALK enzyme commonly results in which clinical symptom?

• cataracts

• hearing loss

• diabetes mellitus

• heart malformations

Epimerase is involved in which biochemical function related to galactosemia?

• conversion of glucose-1P to glucose

• conversion of galactose-1P to galactose

• reversible conversion of UDP-galactose to UDP-glucose

• conversion of glucose to glucose-1P

• conversion of galactose to galactose-1P

In neonatal presentation of GALT deficiency, what symptom, rare in other newborns, is observed?

• hypotonia

• failure to thrive

• macrocephaly

• diarrhea

• jaundice

If a patient is a heterozygous carrier for GALT, they typically have variant with 50% activity AND a promoter mutation referred to as...

• Garcia

• Los Angeles

• Duarte

• New Haven

• Rodriguez