In this video the biochemical mechanism for the presence of jaundice in classic galactosemia is explained. Classic galactosemia is due to defect in galactose 1-phosphate uridyltransferase enzyme. this leads to elevation of galactose 1-phosphate thereby trapping the inorganic phosphate which can lead to fasting hyperglycemia, mental retardation. Elevated galactose 1-phosphate acts negatively on phosphoglucomutase enzyme and decrease the availability of glucose 1-phosphate leading to decreased UDP-glucose and consequently decreased UDP-glucoronate. Decreased availability of UDP-glucoronate lead to decreased activity of UGT1A1. Decreased activity of UGT1A1 lead to decreased conjugation of bilirubin and hence elevated levels of unconjugated bilirubin leading to jaundice. bilateral cataract seen in classic galactosemia is due to increased galactitol formation.
Let me introduce myself to you!!
- Dr.Prakash Mungli, MD
- St. Kitts & Nevis
- I'm a physician doctor with an MD degree. My passion for teaching has always been appreciated by students with whom I have shared my knowledge. I'm a passionate teacher of medical biochemistry and would like to share my knowledge about this beautiful subject with all those who is interested to learn to understand the cellular metabolic events and to understand the metabolic disease process. I would like to learn new things by keeping myself updated with current research in the field. Let us share the knowledge each other!!
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