phenylketonuria ppt

16
PHENYLKETONURIA

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Page 1: Phenylketonuria Ppt

PHENYLKETONURIA

Page 2: Phenylketonuria Ppt

WHAT IS IT?• It is an

autosomal recessive gene disorder

Page 3: Phenylketonuria Ppt

WHAT ELSE?

• It is the absence of PHENYLALANINE HYDROXYLASE

• Also known as hyperphenylalaninemia

Page 4: Phenylketonuria Ppt

WHAT IS THAT?

• It turns phenylalanine to tyrosine

Page 5: Phenylketonuria Ppt
Page 6: Phenylketonuria Ppt

PATHOPHYSIOLOGY

Page 7: Phenylketonuria Ppt

WHAT DOES TYROSINE DO?

• It is needed to produce melanin, epinephrine and thyroxine.

Page 8: Phenylketonuria Ppt

SO WHAT HAPPENS TO THE INFANT IF THEY HAVE THIS?

• Failure to thrive• Vomiting• Rashes and

eczematous skin lesions

• Decreased pigmentation

• Seizures and tremors• Microcephaly• Musty odor from skin

and urinary excretion of phenylacetic acid

Page 9: Phenylketonuria Ppt

HMMM, ECZEMATOUS?

Page 10: Phenylketonuria Ppt
Page 11: Phenylketonuria Ppt

SO WHAT DOES THE BABY LOOK LIKE?

Page 12: Phenylketonuria Ppt

OR…

Page 13: Phenylketonuria Ppt

HOW DO YOU TELL IF THE BABY IS AT RISK?

• Child whose parents each carry a recessive gene of phenylketonuria

• From an Caucasian/ European/ Chinese/ Turkish ancestry

• Child whose parents haven’t considered any genetic counseling

Page 14: Phenylketonuria Ppt

HOW DO WE KNOW FOR SURE?

Page 15: Phenylketonuria Ppt

SO WHAT DO WE DO?• Provide a Low-

phenylalanine formula for the neonate (such as Lofenalac)

• Continue special diet that limits phenylalanine intake

• Inform the parents about the neonate’s need for limited phenylalanine intake

• Provide the parents with a list of foods to allow in the neonate’s diet as well as those to avoid

• Offer emotional support to the parents

Page 16: Phenylketonuria Ppt