Transcript John`s Presentation on Phenylketonuria

Phenylketonuria
By John Fenlon
March of Dimes 2009
Statistical facts!
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1/8 babies have birth defects
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1/33 babies are born with genetic defects
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1/3500 babies are born with metabolic defects
Phenylketonuria (PKU)
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A genetic disorder that affects the enzyme
Phenylalanine hydroxylase (PAH)
 Cannot break down amino acid phenylalanine
Left untreated phenylalanine
accumulates and cannot be
turned into waste
This leads to problems with
brain development, mental
retardation, seizures
Must be detected as
early as possible
Phenylketonuria (PKU)

Autosomal recessive genetic disorder
How to detect it?

All babies are screened 24-28 hours after
birth

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Must be known before consumption of food
Grithe test or HPLC test
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Grithe – cut the baby's heel and get blood
samples
HPLC – High-Performance Liquid
Chromatography, test urine
Treatment
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No cure
Must eat a diet low in phenylalanine for his or her
entire life
 Cannot eat: Meat, chicken, fish, nuts, and
cheese, diet foods/sodas (foods high in protein)
 Low intake: Potatoes, corn, pasta, corn (foods
high in starch)
BioMarin Pharmaceutical made a tablet
(Tetrahydrobiopterin) that keeps phenylalanine
levels low
Gene therapy – Functional PAH is injected into a
patient through a vector (ie virus) to infect cells in
order for them to be able to create their own
Food
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Food choice is limited
Usually all food must be made
at home
However, there are many places to find
recipes to overcome this
http://www.cambrookefoods.com/
The End