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Galactosemia - Coggle Diagram
Galactosemia
Type 2
Only one C/P cataract
Early reversible
Cataract with Lowe's
Cataract with Galactosemia
Cataract with Rubella $
Investigations 4
Urine
Reducing sugar
Blood metabolites
Enzymes assay
Organs
3 key enzymes
Galactokinase
Galactose 1P uridyl transferase
Epimerase
Classification
3 types
Type 1 Classic
Galactose 1P uridyl transferase
Type 2 kinase defiency
Type 3 Epimerase
Clinical manifestations
5 + at birth
Galactitol
Eye
Galactose 1P
Brain
Kidney
Liver
Hypoglycemia
Normal at birth
Nonspecific vomiting 🤮
Poor feeding
FTT
Treatment
Food
Galactose free
In type 1 and 2
Galactose reduced
In types 3
Surgery for complication 👁️
Source 🐄
Lactose = ... + ...
Pathway ??