Galactosaemia

Description

Year 2 (Inborn Errors of Metabolism) Flashcards on Galactosaemia, created by gina_evans0312 on 05/04/2014.
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Flashcards by gina_evans0312, updated more than 1 year ago
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Created by gina_evans0312 over 10 years ago
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Resource summary

Question Answer
Galactokinase Reaction Galactose + ATP --> Gal-1-P + ADP
Galactokinase Issue Galactose accumulates in the blood and is excreted in teh urine
Galactokinase- Symptoms Vomiting & diarrhea on ingestion, enlarged liver
Galactokinase Deficiency- Severe Symptoms Cateract formation (galactose damages blood vessels) and nerve damage, leading to dehydration, jaundice & cirrhosis
Galactose-1-Phosphatase Reaction Galactose-1-P + UDP-Glucose --> UDP-Gal + Glu-1-P
Main Issue with Galactose-1-P Deficiency Depletes free phosphate & inhibits glucokinase
Galactose-1-Phosphatase Deficiency- Galacitol Increases galacitol formation which leads to jaundice
Treatment Galactose free diet i.e. artificial milk
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