new_n_lost
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A newborn appears normal at birth, but develops vomiting and diarrhea accompanied by jaundice and hepatomegaly within the first few weeks of life. Within months, the baby has obvious cataracts and ascites. The infant is switched to a milk-free diet, which stabilizes but does not completely reverse his condition. By one year of age, he has developed mental retardation.
Which of the following is the most likely diagnosis?
A. Cystic fibrosis
B. Galactosemia
C. McArdle's disease
D. Von Gierke's disease
E. Wilson's disease
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| hope4dabest
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B
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| jean robert
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B
Galactose-1-phosphate uridyl transferase deficiency
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| aml
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B
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| GoodGirl
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B
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| new_n_lost
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hope4dabest wrote:
B
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| new_n_lost
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The correct answer is B.
Galactosemia is an autosomal recessive disease caused by a deficiency of galactose-1-phosphate uridyltransferase, which is necessary for the metabolism of the galactose derived from milk lactose. The condition should be suspected in infants with growth failure, cataracts, liver disease, aminoaciduria, and mental retardation. A reducing sugar (galactose) is usually present in the urine. Most of the pathology is related to the toxic effects of galactose-1-phosphate. Treatment involves strict dietary lactose restriction, which consists of more than simply withdrawal of milk products, because lactose is also present in many non-diary foods. Strict adherence to the diet can strikingly alter the course of this disease.
Cystic fibrosis (choice A) is associated with maldigestion, pancreatic disease, and pulmonary disease.
McArdle's disease (choice C) is a glycogen storage disease that selectively affects muscle.
Von Gierke's disease (choice D) is a glycogen storage disease affecting the liver and kidneys.
Wilson's disease (choice E) is a caused by a metabolic abnormality in the handling of copper that can cause cirrhosis and brain damage, and usually presents in adolescence.
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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