PKU

Question 1

What is the normal range of phenylalanine levels?

Answer 1

<120

Question 2

2. What is the mode of inheritance of phenylketonuria (PKU)?

Answer 2

autosomal recessive

Question 3

How are hyperphenylalaninemia (HPA) and mild, moderate and severe PKU defined?

Answer 3

HPA: 120-600
mild: 600-900
moderate: 900-1200
severe: >1200

Question 4

Which enzyme deficiency causes PKU?

Answer 4

phenyl alaninde hydroxylase

Question 5

How should phenylalanine levels be assessed preconception and during pregnancy

Answer 5

preconception: every 2 weeks
preg: every 3 weeks

Question 6

When should tyrosine supplementation be started during pregnancy?

Answer 6

from 16 weeks

Question 7

What contraception is recommended preconception until phenylalanine levels are optimized?

Answer 7

Use COC till target range, then condom for 3 Months

Question 8

What is the target phenylalanine level for women planning pregnancy?

Answer 8

<350

Question 9

A baby born to a mother with poorly managed PKU is similar to a baby with which syndrome?

Answer 9

congenital alcohol syn

Question 10

What is the risk of congenital heart disease in babies of mothers with PKU, and what other major anomaly should be considered?

Answer 10

7-10%

microcephaly