Question 1: GI (15 points) Patien Information: An infant presents with constant

Question

Question 1: GI (15 points)

Patien Information:

An infant presents with constant diarrhea, failure to thrive (not growing and not gaining weight appropriately), and generalized edema.

Blood test shows that the infant has hypoproteinemia (low protein levels in the blood).

A sample of duodenal juice and the duodenal mucosa indicates that the infant has low enterokinase activity and low trypsin activity.

If enterokinase is added to the duodenal juice sample, trypsin activity returns to the normal range. Based on the tests, the infant is diagnosed with a very rare disorder: enterokinase deficiency.

Questions:

1) What is the link between low enterokinase activity and low trypsin activity? (1 point, 30 words)

2) What other enzymes would also have low activity in this infant with enterokinase deficiency? Explain. (40 words, 2 points)

3) Deficiency in digestion and absorption of what macromolecule(s) will occur in this infant? Explain the role of the enzymes named in questions 1 and 2 in the infant

Explanation / Answer

Answer:

1.A)

The heavy chain achors enterokinase in the intestinal brush border membrane and the light chain is the catalytic subunit,which has the same mechanism of avtion as trypsin. Once in the small intestine, the enzyme enterokinase activates trypsinogen into trypsin by proteolytic cleavage.

2.A)

These data provide first evidence that proenteropeptidase-gene mutations are the primary cause of congenital enteropeptidase deficiency. In accordance with the biochemical findings, all four defective alleles identified are predicted null alleles leading to a gene product not containing the active site of the enzyme.

3.A)

Deficiency in digestion and absorption in infants:

Digestive enzyme problems in infants can be minor and easily corrected with supplements or they can be a sign of more serious illness.
Symptoms of Possible Enzyme Problems:

4.A)

Process by which diarrhea develops in this infant:

The stool color is generally yellow mustard or orange but occasionally may have a greenish tinge.
You may suspect your breastfed baby has diarrhea if her bowel movements,

Other signs of illness in your baby,such as fever,vomting,and nasal congestion.

5.A)

Hypoproteinemia in infants:

6.A)

Edema:

Edema is a condition of abnormally large fluid volume in the circulatory system or in tissues between the body's cells.Edema is a complicated process that takes place between the baby's blood and the mother's blood.
Forexample:
In infant, the feet and lower legs seem unusually puffy. Although edema in general has a long list of possible etiologies, it is helpful to begin by determining if the edema is generalized or localized. Edematous hands and feet in particular are known to be associated with Turner's syndrome in infancy, so this diagnosis should be considered in girls with this finding. In this case, Turner's syndrome was the underlying etiology.

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