Pregunta:
Galactosaemia types and features
Autor: Lapras FanRespuesta:
2 types - classical ( GALT deficieny ) and non-classical ( galactokinase deficiency ) Classical - 1-P uridyl transferase enzyme deficiency leading to accumulation of galactose-1-phosphate --> liver and brain damage Both leads to accumulation of galactose and galactose-1-phosphate in tissues leading to the formation of galactitol and cataracts Also depletes the tissues NADPH stores
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