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Phenylketonuria - PowerPoint PPT Presentation


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Phenylketonuria. a) Metabolic block. b) Autosomal recessive . c) Pleiotropism. d) Variable expressivity. e) Effective treatment. f) Screening. Symptoms:(Untreated). 1) Anatomical. Microcephaly (small head) Hypopigmentation (fair eyes, skin, hair). 2) Neurological. Seizures

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Presentation Transcript
slide1

Phenylketonuria

a) Metabolic block

b) Autosomal recessive

c) Pleiotropism

d) Variable expressivity

e) Effective treatment

f) Screening

slide2

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
slide5

Tissue Proteins

Diet

Phenylalanine

Tyrosine

Phenyalaninehydroxylase

(PAH)

slide6

Melanin

Tissue Proteins

Diet

Phenylalanine

Tyrosine

DOPA

PAH

phenyl-

pyruvic acid

DA

(dopamine)

p-hydroxy-

phenlypyruvate

NE

(norepinephrine)

homogentisic

acid

thyroxine

slide7

Melanin

Tissue Proteins

Diet

Phenylalanine

Tyrosine

DOPA

PKU

phenyl-

pyruvic acid

DA

(dopamine)

p-hydroxy-

phenlypyruvate

NE

(norepinephrine)

homogentisic

acid

thyroxine

slide8

goitrous

cretinism

Tyrosinosis

p-hydroxy-

phenlypyruvate

homogentisic

acid

thyroxine

Alkaptonuria

Melanin

Tissue Proteins

Diet

Albinism

Phenylalanine

Tyrosine

DOPA

PKU

phenyl-

pyruvic acid

DA

(dopamine)

NE

(norepinephrine)

slide9

Prevalence of PKU:

Ethnic Group:

Births:

Carriers:

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

slide10

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

slide11

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