disorders of sugar metabolism

Question 1

these are all symptoms of what disease

failure to thrive

intellectual disability

hepatomegaly

jaundice

INFANTILE CATARACTS

Answer 1

Classic galactosemia

Question 2

what disorder is caused by

Galactokinase

deficiency

Answer 2

Galactokinase deficiency

Question 3

what disorder is caused by

Aldolase B

def

Answer 3

Fructose intolerance

Question 4

what disorder is caused by

Galactose-1-phosphate uridyltransferase

Answer 4

Galactosemia

Question 5

what disorder is caused by

Fructokinase def

Answer 5

essentail fructosuria

Question 6

tx for fructose intolerance

(def in aldolase B)

Answer 6

dec intake of both

fructose and sucrose (glucose + fructose)

and sorbitol*

Question 7

young kid trys fruit for first time and now has vomiting, sweating, fatigue.

labs show inc in fructose-1-phosphate acuumulated.

what is the disorder

Answer 7

fructose intolerance

Question 8

child presents with after (“juice ingestion”)

hypoglycemia

jaundice

cirrhosis / liver failure

VOMITING

hepatomegaly

Answer 8

Fructose intolerance.