A newborn baby, Alex, shows abnormal results on a routine newborn screening test. The baby appears healthy but the test results indicate possible concerns regarding carbohydrate metabolism. Screening Results: • Elevated levels of galactitol in urine. Family History: No known familial diseases. Parents are non- consanguineous and healthy. Question: Given the screening results, hypothesize a metabolic condition that could explain the elevation of galactitol in Alex's urine. Describe the biochemical pathway affected, potential long- term complications, and management strategies for the diagnosed condition.
A newborn baby, Alex, shows abnormal results on a routine newborn screening test. The baby appears healthy but the test results indicate possible concerns regarding carbohydrate metabolism. Screening Results: • Elevated levels of galactitol in urine. Family History: No known familial diseases. Parents are non- consanguineous and healthy. Question: Given the screening results, hypothesize a metabolic condition that could explain the elevation of galactitol in Alex's urine. Describe the biochemical pathway affected, potential long- term complications, and management strategies for the diagnosed condition.
Chapter22: Fat-controlled, Mineral-modified Diets For Cardiovascular Diseases
Section: Chapter Questions
Problem 2CA
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Question
A newborn baby, Alex, shows abnormal results on a routine newborn screening test. The baby appears healthy but the test results indicate possible concerns regarding carbohydrate metabolism .
Screening Results:
• Elevated levels of galactitol in urine.
Family History: No known familial diseases. Parents are non- consanguineous and healthy.
Question: Given the screening results, hypothesize a metabolic condition that could explain the elevation of galactitol in Alex's urine. Describe the biochemical pathway affected, potential long- term complications, and management strategies for the diagnosed condition.
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