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arah A86-Which should we rule out in a newborn with jaundice and normocolic stool?-gauche-alpha antitrypsin deficiency-galactosemia-cytomegalovirus-glycogen type 1 storage disease

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arah A86-Which should we rule out in a newborn with jaundice and normocolic stool?-gauche-alpha antitrypsin deficiency-galactosemia-cytomegalovirus-glycogen type 1 storage disease

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In a newborn with jaundice and normocolic stool, we can rule out alpha-1 antitrypsin deficiency. This condition typically presents with jaundice and pale or acholic stools, not normocolic stools.

  1. Gaucher's disease: This is a genetic disorder that affects many of the body's organs and tissues. It does not typically present with jaundice and normocolic stool in newborns.

  2. Alpha-1 antitrypsin deficiency: This is a disorder that can cause lung disease and liver disease. The liver disease can lead to jaundice, but it also typically causes pale or acholic stools, not normocolic stools. Therefore, we can rule this out.

  3. Galactosemia: This is a condition that affects the body's ability to process the simple sugar galactose, leading to a range of symptoms including jaundice. However, it does not typically affect the color of the stool.

  4. Cytomegalovirus (CMV): This is a common virus that can infect people of all ages. In newborns, it can cause symptoms such as jaundice, but it does not typically affect the color of the stool.

  5. Glycogen storage disease type I: This is a genetic disorder that affects the body's ability to break down glycogen, a stored form of sugar used for energy. It can cause a range of symptoms, including jaundice, but it does not typically affect the color of the stool.

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