Case Study
Identification/chief complaint: A 5 month-old male is brought to the doctors because of frequent nausea,vomiting, night sweats, tremors, and lethargy.
History of present illness: The patiet was exclusive breast fed during the first 4 months and was well. The onset of symptoms occured with the occasional addition of fruit juices to the child's diet.
Physical exam: Lazy-looking, slighly jaundiced, mild growth retardation, hepatomegaly.
Labs: Marked hypoglycemia,fructosemia
Treatment: Return to breast feeding as a sole food. Avoid fruit juices, fruits and sweets.
1. What are the "red flags" in the case?
2.What is the diagnosis?
3. What genes are affected? What is the role of these genes in normal individuals?
4. What "error" has occured to result in this condition?
5. How has this error affected the function of the gene?
Case Study
Identification/chief complaint: A 5 month-old male is brought to the doctors because of frequent nausea,vomiting, night sweats, tremors, and lethargy.
History of present illness: The patiet was exclusive breast fed during the first 4 months and was well. The onset of symptoms occured with the occasional addition of fruit juices to the child's diet.
Physical exam: Lazy-looking, slighly jaundiced, mild growth retardation, hepatomegaly.
Labs: Marked hypoglycemia,fructosemia
Treatment: Return to breast feeding as a sole food. Avoid fruit juices, fruits and sweets.
1. What are the "red flags" in the case?
2.What is the diagnosis?
3. What genes are affected? What is the role of these genes in normal individuals?
4. What "error" has occured to result in this condition?
5. How has this error affected the function of the gene?
