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Galactosaemia

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(Inborn Errors of Metabolism) Year 2 Fichas sobre Galactosaemia, creado por gina_evans0312 el 05/04/2014.
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Fichas por gina_evans0312, actualizado hace más de 1 año
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Creado por gina_evans0312 hace más de 10 años
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Resumen del Recurso

Pregunta Respuesta
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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