Phenylketonuria - PowerPoint PPT Presentation

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Phenylketonuria

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goitrous. cretinism. Tyrosinosis. Prevalence of PKU: Turkish. Celtic, Northern European ... 1) Best: Specially prepared, phe-free foods supplements ... – PowerPoint PPT presentation

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Title: Phenylketonuria


1
Phenylketonuria
a) Metabolic block
b) Autosomal recessive
c) Pleiotropism
d) Variable expressivity
e) Effective treatment
f) Screening
2
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

3
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4
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5
Tissue Proteins
Diet
Phenylalanine
Tyrosine
Phenyalaninehydroxylase (PAH)
6
Melanin
Tissue Proteins
Diet
Phenylalanine
Tyrosine
DOPA
PAH
phenyl- pyruvic acid
DA (dopamine)
p-hydroxy- phenlypyruvate
NE (norepinephrine)
homogentisic acid
thyroxine
7
Melanin
Tissue Proteins
Diet
Phenylalanine
Tyrosine
DOPA
PKU
phenyl- pyruvic acid
DA (dopamine)
p-hydroxy- phenlypyruvate
NE (norepinephrine)
homogentisic acid
thyroxine
8
Melanin
Tissue Proteins
Diet
Albinism
Phenylalanine
Tyrosine
DOPA
PKU
phenyl- pyruvic acid
DA (dopamine)
NE (norepinephrine)
9
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
10
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
11
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
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