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PHENYLKETONURIA (PKU) PowerPoint PPT Presentation


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PHENYLKETONURIA (PKU). (a). (b). The normal metabolism of phenylalanine (pathways a and b ). BREAKDOWN. Dietry sources, particularly plant proteins. PHENYLALANINE HYDROXYLASE. PHENYLALANINE. TYROSINE. BODY PROTEINS. © 2008 Paul Billiet ODWS. (c).

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PHENYLKETONURIA (PKU)

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Phenylketonuria pku l.jpg

PHENYLKETONURIA (PKU)


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(a)

(b)

The normal metabolism of phenylalanine

(pathways a and b)

BREAKDOWN

Dietry sources, particularly plant proteins

PHENYLALANINEHYDROXYLASE

PHENYLALANINE

TYROSINE

BODY PROTEINS

© 2008 Paul Billiet ODWS


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(c)

Dietry sources, particularly plant proteins

PHENYLALANINEHYDROXYLASE

PHENYLALANINE*

(a)

(c)

(b)

BODY PROTEINS

HYDROXYPHENYLACETIC ACID

The abnormal metabolism in phenylketonuric subjects

(pathway c)

PHENYLACETIC ACID*

*Agents, thought to be responsible for mental retardation

© 2008 Paul Billiet ODWS


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Test

  • Ferric chloride + urine of new born baby Green colour in the presence of ketone bodies

© 2008 Paul Billiet ODWS


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Treatment

  • A strictly controlled phenylalanine free diet

  • up to the age of about 14 years old

  • phenylalanine is itself an essential amino acid small doses must be supplied

  • After this age the growth and development of the brain is not affected by high levels of phenylalanine in the body

© 2008 Paul Billiet ODWS


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Frequency

  • 1 in 10 000 in Caucasians of NW Europe

© 2008 Paul Billiet ODWS


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Causes

  • A single mutant recessive allele of the Phenylalanine Hydroxylase (PAH) gene Locus : Long arm of Chromosome 12

  • Dietary excess of plant proteins which results in the exhaustion of a protein cofactor (pterin) needed by the enzyme

© 2008 Paul Billiet ODWS


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Evolution

  • Heterozygotes (carriers) are thought to be less susceptible to toxins produced by the moulds Aspergillus and Penecillium

  • These grow on foods in damp wet climates (e.g. NW Europe)

  • Heterozygous women show lower spontaneous abortion rates

© 2008 Paul Billiet ODWS


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