?1) A 4-month-old child is exhibiting delayed growth and excessive tiredness. It

Question

?1) A 4-month-old child is exhibiting delayed growth and excessive tiredness. It is noted that her liver is enlarged. Laboratory studies show:

• a liver biopsy shows glycogen levels well above normal

• a serum glucose concentration of 31 mg/dl (normal is 70-90 mg/dl)

• a high serum lactate of 11.3 mM (normal is < 2.0 mM)

• a high level of serum glucagon

a) Which metabolic pathway or pathways may be blocked? Explain. (3 pts) b) Which enzyme is most likely to be deficient? Why? (2 pts) c) Why is insulin low? (1 pt) d) Which other hormone(s) levels may be elevated or low? Why? (2 pts)

Explanation / Answer

The points mentioned above in the biopsy report exhibit the symptoms of GALACTOSEMIA

a. The metabolic pathway which gets blocked in this disorder is the breakdown of galactose. Since lactose is am important componenet of food, which is brogken down into glucose and galsctose. Galactose is a disaccharide which further needs to be broken down into monosaccharide, that is glucose. The metabolic reaction which gets blocked in Galactosemia , is the conversion of galactose into glucose. symptom is enlarged liver, because of accumulation of glycogen molecules.

b. Enzyme which is deficient in this case is Galactose 1-phosphate uridyl transferase.

c SINCE GALACTOSE IS NOT METABOLIZED INTO GLUCOSE and insulin works to lower the blood glucose levels . if already blood glucose is low, insulin will not perform its reaction, thus the level of insulin is also decreased, which inturn leads to Diabetes. Thus other hormones level also geta disturbed.

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