Phenylketonuria TOG

Question 1

Inheritance of PKU?

Answer 1

AR

Question 2

What is PKU caused by?

Answer 2

Deficiency in liver enzyme phenylalanine hydroxylase

PAH converts phenylaline into tyrosine

Question 3

What can untreated PKU cause in pregnancy?

Answer 3

PKU in neonate
IUGR
Microcephaly
Congenital heart disease
Interlleicutal difficulty
Facial dysmorpphism
Eczemaroiuis rash
Similar to fetal alcohol syndrome

Question 4

Primary treatment for PKU

Answer 4

Low The-restrcited diet

Question 5

Scans for PKU

Answer 5

11-14
20-22 including ECHO
Serial growth USS

Question 6

Rate of congenital heart defects in PKU

Answer 6

7-10%

Question 7

Can you breastfeed with PKU

Answer 7

Yes encourage, breast milk has lower The than infant formulas. Reduced The formula milk available

Question 8

What monitoring offered to children of mothers with PKU

Answer 8

PKU screening dates 5
Review metabolic consultant at 3 months PP
Clinical psychologica 18months, 4, 8 and 14 years