phenylketonuria ppt

PHENYLKETONURIA

WHAT IS IT?• It is an

autosomal recessive gene disorder

WHAT ELSE?

• It is the absence of PHENYLALANINE HYDROXYLASE

• Also known as hyperphenylalaninemia

WHAT IS THAT?

• It turns phenylalanine to tyrosine

PATHOPHYSIOLOGY

WHAT DOES TYROSINE DO?

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

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

HMMM, ECZEMATOUS?

SO WHAT DOES THE BABY LOOK LIKE?

OR…

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

HOW DO WE KNOW FOR SURE?

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