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Metabolism Diseases

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Pregunta:

Galactosaemia (Difference between the two causes)

Autor: Satvika Sinha



Respuesta:

Galactokinase deficiency non classical: Rare, deficiency of Galactokinase, Increased galactose in blood, urine (galactosuria), increased accumulation within cataracts. GALT (galactose-1-phosphate uridylyl transferase) deficiency: Less Rare, Deficiency in GALT, leading to Galactosuria, galactosaemia,galactose-1-p and galactitol accumulate causing cataracts, brain and liver damage . Galactitol formation depletes tissues of NADPH and raises osmotic pressure - structure damage Symptoms include- cirhossis, hepatomegaly, renal failure, voimiting, seizures, brain damage, hypoglycaemia. TREATMENT - dietary restriction (lactose and galactose)


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