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PHENYLKETONURIA

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Mental Retardation, Seizures, Fair Skin, 'Mousy Odor' & Eczema. Phenylketonuria. PAH Gene ... levels of Phenylalanine can cause brain damage, if left untreated. ... – PowerPoint PPT presentation

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Title: PHENYLKETONURIA


1
PHENYLKETONURIA
  • Stephanie Holton

2
Phenylketonuria
  • Genotype
  • Mutuation of the enzyme, phenylalanine
    hydroxylase (PAH)
  • Phenotype
  • Mental Retardation, Seizures, Fair Skin, Mousy
    Odor Eczema.

3
Phenylketonuria
  • PAH Gene-
  • Location chromosome 12q22-24
  • Length 79,278 bps (13 exons)
  • Over 450 mutations in the gene have been
    identified in patients with PKU.

4
Phenylketonuria
  • Normal PAH gene function-
  • Responsible for the first step in processing the
    amino acid phenylalanine.
  • Also, necessary for the conversion of
    phenylalanine to tyrosine.

5
Phenylketonuria
6
Phenylketonuria
  • Conserved Domains-
  • 1) ACT (35-109) regulatory role
  • 2) euPHeOH (119-424)
  • Catalyzes the first and rate-limiting step in the
    metabolism of phenylalanine
  • Location of PAH mutation in PKU

7
Phenylketonuria
  • PAH Mutation-
  • Most common is located at position 408
  • A substitution of an Arginine with a
    Tryptophan(Arg408Trp).

8
Phenylketonuria
  • Aberrant Function-
  • Reduces the activity of phenylalanine hydroxylase
  • Phenylalanine ingested in foods cannot be
    metabolized and accumulates to toxic levels in
    the bloodstream and other tissues

9
Phenylketonuria
  • Aberrant Phenotype-
  • The increased levels of Phenylalanine can cause
    brain damage, if left untreated.
  • Tyrosine- necessary for production of certain
    neurotransmitters melanin (in hair in skin)

10
References
  • http//www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id
    261600
  • http//www.ncbi.nlm.nih.gov/entrez/query.fcgi?dbg
    enecmdRetrievedoptfull_reportlist_uids5053
  • http//ghr.nlm.nih.gov/genepah
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