PHENYLKETONURIA
(PKU)
PHENYLALANINE
HYDROXYLASE
PHENYLALANINE
Dietry
sources,
particularly
plant
proteins
BODY
PROTEINS
BREAKDOWN
(b)
(a)
The no...
HYDROXYPHENYLACETIC
ACID
PHENYLACETIC
ACID*
(c)
(c)
The abnormal metabolism in phenylketonuric subjects
(pathway c)
*Agent...
Test
 Ferric chloride + urine of new born baby→
Green colour in the presence of ketone
bodies
© 2008 Paul Billiet ODWS
Treatment
 A strictly controlled phenylalanine free diet
 up to the age of about 14 years old
 phenylalanine is itself ...
Frequency
 1 in 10 000 in Caucasians of NW Europe
© 2008 Paul Billiet ODWS
Causes
1. A single mutant recessive allele of the
Phenylalanine Hydroxylase (PAH) gene
Locus : Long arm of Chromosome 12
2...
Evolution
 Heterozygotes (carriers) are thought to be
less susceptible to toxins produced by the
moulds Aspergillus and P...
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Phenylketonuria(pku)

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Phenylketonuria(pku)

  1. 1. PHENYLKETONURIA (PKU)
  2. 2. PHENYLALANINE HYDROXYLASE PHENYLALANINE Dietry sources, particularly plant proteins BODY PROTEINS BREAKDOWN (b) (a) The normal metabolism of phenylalanine (pathways a and b) TYROSINE © 2008 Paul Billiet ODWS
  3. 3. HYDROXYPHENYLACETIC ACID PHENYLACETIC ACID* (c) (c) The abnormal metabolism in phenylketonuric subjects (pathway c) *Agents, thought to be responsible for mental retardation PHENYLALANINE* Dietry sources, particularly plant proteins BODY PROTEINS (b) (a) PHENYLALANINE HYDROXYLASE © 2008 Paul Billiet ODWS
  4. 4. Test  Ferric chloride + urine of new born baby→ Green colour in the presence of ketone bodies © 2008 Paul Billiet ODWS
  5. 5. 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
  6. 6. Frequency  1 in 10 000 in Caucasians of NW Europe © 2008 Paul Billiet ODWS
  7. 7. Causes 1. A single mutant recessive allele of the Phenylalanine Hydroxylase (PAH) gene Locus : Long arm of Chromosome 12 2. Dietary excess of plant proteins which results in the exhaustion of a protein cofactor (pterin) needed by the enzyme © 2008 Paul Billiet ODWS
  8. 8. 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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