Phenylketonuria

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Phenylketonuria
a) Metabolic block
b) Autosomal recessive
c) Pleiotropism
d) Variable expressivity
e) Effective treatment
f) Screening
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Symptoms(Untreated)
1) Anatomical

• Microcephaly (small head)
• Hypopigmentation (fair eyes, skin, hair)

2) Neurological

• Seizures
• EEG Abnormalities

3) Motoric

• Hypertonicity (posturing)
• Poor coordination

4) Behavioral

• Hyperactivity
• Attention Problems
• Lower IQ

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Tissue Proteins
Diet
Phenylalanine
Tyrosine
Phenyalaninehydroxylase (PAH)
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Melanin
Tissue Proteins
Diet
Phenylalanine
Tyrosine
DOPA
PAH
phenyl- pyruvic acid
DA (dopamine)
p-hydroxy- phenlypyruvate
NE (norepinephrine)
homogentisic acid
thyroxine
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Melanin
Tissue Proteins
Diet
Phenylalanine
Tyrosine
DOPA
PKU
phenyl- pyruvic acid
DA (dopamine)
p-hydroxy- phenlypyruvate
NE (norepinephrine)
homogentisic acid
thyroxine
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Melanin
Tissue Proteins
Diet
Albinism
Phenylalanine
Tyrosine
DOPA
PKU
phenyl- pyruvic acid
DA (dopamine)
NE (norepinephrine)
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Prevalence of PKU
Births
Carriers
Ethnic Group
Turkish
1/2,500
1/26
Celtic, Northern European
1/5,000
1/33
Other Causacsian
1/10,000
1/50
Japanese
1/150,000
1/200
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Diet for PKU
1) Best Specially prepared, phe-free foods
supplements
2) Next Best Fruits, juices, certain veggies
3) Bad grain products, pasta, other
veggies(e.g., rice, potatoes, corn, peas)
4) Really Bad dairy products, eggs, nuts, meats,
fish
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Colorado currently screens for
Biotinidase Deficiency Congenital Adrenal
Hyperplasia (CAH) Cystic Fibrosis (CF)
Galactosemia Hypothyroidism (congenital)
Phenylketonuria (PKU) Sickle Cell Disease (SCD)
and Hemoglobinopathies
http//www.savebabies.org/states/colorado.php