PHENYLKETONURIA

Question 1

Phenylketonuria (PKU), is an inherited disease in which the body cannot properly process the amino acid phenylalanine due to a deficient enzyme called _____ _____.

Answer 1

PAH or PHENYLALANINE HYDROXYLASE

Question 2

Other name of also called Phenylalanine hydroxylase deficiency (PAH deficiency)

Answer 2

PHENYLKETONURIA

Question 3

What does Phenylalanine does normally?

Answer 3

Protein rich food> converted into Phenylalanine > needs Phenylalanine Hydroxylase [PAH] convert Phenylalanine into > Tyrosine

Normally once phenylalanine enters the body in the shape of proteins most of it is converted into tyrosine by the enzyme, phenylalanine hydroxylase. tyrosine is then turned into neurotransmitters which are important for normal brain development.

Question 4

Purpose of Tyrosine

Answer 4

Tyrosine:
* Helps in production of: melanin, dopamine, serotonin
* Helps in iodinization or synthesis of Tyroxine [responsible in growth and dev’t]

Question 5

PATHO of PHENYLKETONURIA

Answer 5

mutated gene of PAH > Phenylalanine will not be converted > Decrease Tyrosine production >
1. Decreases Melanin, dopamine, Serotonin
2. Impaired synthesis of Tyroxine

Enzymatic blocks in the conversion of the essential amino acid phenylalanine to tyrosine. Classic PKU consist of the absence of the enzyme phenylalanine hydroxylase. Which results in the toxic accumulation of phenylalanine in the bloodstream after ingesting protein.

Question 6

Lack of Melanin s/sx

Answer 6

• Fair skin
• Blond Hair
• Blue Eyes

Question 7

Lack of tyrosine s/sx

Answer 7

Mental Retardation
Seizure

Question 8

-Begin to have immediate effect on the infant, although the signs may not be apparent until the infant is approximately 3 months old.
-Digestive problems-vomiting
-Musty or mousy odor to the urine
-Infantile eczema
-Hypertonia
-Seizures
-Hyperactive behavior
-In older children–> hypopigmentation of the hair, skin, and irises can happen (commonly blue eyes with blonde hair)
-Intellectual impairment if left untreated

Answer 8

s/sx on the internet

Question 9

lecture with mam jez s/sx

Answer 9

-Digestive problems-vomiting
-Musty or mousy odor to the urine
-Infantile eczema
-Hypertonia
-Seizures
-Fair skin, Blonde hair, Blue eyes

Question 10

dx. test

Answer 10

GUTHRIE TEST

Same with newborn screening but this test is specialized for Phenylketonuria.

Question 11

N. MNGT.

Answer 11

The patient has no Phenylalanine indefinitely. So restrictive diets must be implemented.

Question 12

Infant will be placed on a special formula called ____that provides appropriate proteins, vitamins, minerals and calories for optimal growth and development.

Answer 12

Lofenalac

Question 13

Provide instructions regarding the PKU diet (All natural food proteins contain phenylalanine and will need to be limited.)
-Restricted diet allows enough phenylalanine for normal growth and development but not enough to build up in the body. Safe range DEPENDS upon age of child.
-Treatment is begun no later than 7-10 days after birth AND IS CONTINUED FOR LIFE!!
-Infant will be placed on a special formula Lofenalac or Phenex that provides appropriate proteins, vitamins, minerals and calories for optimal growth and development.
-May be allowed to breast feed with close monitoring of phenylalanine levels.
-Solid foods such as cereal, fruits, and veggies are introduced as usual to infant.

Answer 13

N. considerations

Question 14

What are foods high in proteins?

Answer 14

Legumes, fish, meats, eggs, cheeses, and milk.