Inherited Metabolic Diseases

Question 1

Mode of inheritance of phenyketonuria

Answer 1

AR

Question 2

What is the Guthrie teat used for?

Answer 2

Screening of phenylketonuria in newborns

Question 3

What is the target level of phenylalanine in phenylketonuria needed for management?

Answer 3

<400 mcmol/L

Question 4

Management of phenylketonuria (PKU)

Answer 4

Diet: protein restriction
Enzyme enhancement: sapropterin (tetrahydrobiopterin BH4)
Enzyme replacement: palynziq (phenylalanine amonialyase)

Large Neutral Amino Acids(LNAA)

Question 5

What is the enzyme defect in phenylketonuria?

Answer 5

Phenylalanine hydroxylase

Question 6

Diagnosis of phenylketonuria(PKU)

Answer 6

Guthrie test

Elevated phenylalanine and decreased tyrosine

Question 7

What is the enzyme deficient in Pompe’s disease?

Answer 7

Acid alpha glucosidase (acid maltase)

Causes glycogen build up in the body.

Question 8

Management of Pompe’s disease (gycogen storage disease type 2)

Answer 8

Enzyme replacement therapy: Myozyme (very expensive)