PHENYLKETONURIA

1. The human body’s inability to breakdown phenylalanine into another essential amino acid

necessary for dopamine synthesis can be corrected by a phenylalanine rich diet.

A. True

B. False

C. None of the above

2. Which of these best explains why a child affected by phenylketonuria grows a much lighter

skin.

A. Deficiency of the complex structure essential for normal skin development

B. Deficiency of an essential amino acid needed for the synthesis of melanin

C. Deficiency of the enzyme phenylalanine hydroxylase which converts phenylalanine to

tyrosine.

3. A 6 months old boy presents with a reduced head circumference, low birth weight and regular

seizures. The mother words were “I’m not exaggerating, my child’s breath smells like garbage.”

To confirm the physician’s diagnosis of a possible phenylketonuria, test results should show

A. an increased level of phenylpyruvate in urine

B. a decreased level of phenylalanine in urine

C. an abnormal level of phenylalanine hydroxylase in urine

Kwaku Duah, a full-time hunter and his partner Ama Asabea are clinically normal. Throughout

their 20 years stay in the Oti region, the Akan couple’s consumption of fufu and bush meat on a

regular and on special days is something they are well known for.

4. The probable cause of their daughter being a PKU patient is

A. both Kwaku Duah and Ama Asabea have one mutated gene, one normal gene each

B. both Kwaku Duah and Ama Asabea have two mutated genes each

C. both Kwaku Duah and Ama Asabea have one recessive gene and one mutated gene each

5. The chances of their next child inheriting the condition is

A. zero

B. two out of four

C. one out of 4

6. The brain injury secondary to phenylketonuria is as a result of the toxic accumulation of

……………….. and the deprivation of ………………..

A. phenylalanine and galactose

B. Tyrosine and phenylalanine hydroxylase

C. phenylalanine and tyrosine

7. About phenylketonuria management

A. Strict diet with limited protein

B. parenteral fluids rich in Vitamin E

 C. targeted therapy

8. Foetal exposure to high levels of phenylalanine leads to all except

A. an abnormally small head

B. high protein compatibility

C. low birth weight

9. Aspartame, a dietary sweetener, is composed of 50% phenylalanine, 40 % aspartic acid and

10% methanol. Since phenylalaline is a precursor for the neurotransmitter tyrosine, feeding a

PKU child with aspartame eventually enhances his or her cognitive ability.

A. True

B. False

C. None of the above

10. The major duty of a nurse to the family of a child with phenylketonuria is

A. education on dietary restrictions

B. screening for phenylpyruvate every 2 to 5 days

C. screening for phenylpyruvate every 2 to 3 weeks.

GALACTOSEMIA

1. A nurse is educating a mother whose child has been diagnosed of galactosemia. One of the

following was probably said during the education session?

A. Always remember, “an egg a day saves the day.”

B. Be careful not to send your child to crowded places to cut the chain of transfer of the

condition to others

C. Develop a habit to reading food labels for the presence of any form of lactose

2. Deficiency of the hepatic enzyme galactose 1-phosphate uridyltransferase leads to

accumulation of ……………………….. metabolite which is extremely toxic to cells of the

kidney, liver and other organs.

A. galactose 1-phosphate

B. galactose phosphuridyl

C. galactokinase

3. Diagnosis of galactosemia is made with the aid of all except

A. Increased levels of galactose in the blood

B. Abnormal cerebrospinal fluid levels

C. Physical examination

4. 24 hours after delivery, diagnostic tests confirms a child has galactosemia. What is a possible

complication nurse should look out for?

A. Hypothyrodism
 B. Hyerproteinaemia

C. Hypoglycemia

5. The damage of the intestinal walls by high levels of galactose in the bowel of children with

galactosemia leads to

A. E. coli sepsis

B. Hyperglycemia

C. Abnormal cerebrospinal fluid levels

HYPOTHYROIDISM

1. In children with severe hypothyroidism increased levels of L- thyroxine are administered

within a 24-hour period instead of the normal period of 4 to 8 weeks to restore thyroid function.

A. True

B. False

C. None of the above

2. One important duty of a nurse in the management of hypothyroidism is

A. periodic monitoring of thyroid hormone levels

B. advising relative to avoid sharing sharp objects with patient

C. performing daily urinalysis test

3. One of these is odd among the causes of hypothyroidism

 A. Deficient dietary iodine

B. Deficient beta-transferase

C. A partial thyroidectomy for cancer

4. One would expect all these in a late detection and untreated case of congenital hypothyroidism

except

I. Growth failure

II. Mental retardation

III. Impaired hearing

A. I and II only

B. I and III only

C. I, II and III

5. Growth deceleration is a clear indication that hypothyroidism is ……………………….

A. Acquired

B. Congenital

C. Progressive
References

1. Marshall, J. and Raynor, M., 2014. Myles Textbook for Midwives. 16th ed. pp.693-694.

2. Hockenberry, M. and Wilson, D., 2015. Wong's Nursing Care of Infants and Children.

10th ed. Elsevier, pp.70-73.

3. Hockenberry, M. and Wilson, D., 2015. Wong's Nursing Care of Infants and Children.

10th ed. Elsevier, pp.73-74.

4. Marshall, J. and Raynor, M., 2014. Myles Textbook for Midwives. 16th ed. pp.694.

5. Hockenberry, M. and Wilson, D., 2015. Wong's Nursing Care of Infants and Children.

11th ed. Elsevier, pp.1180.