Galactose Metabolism Flashcards
Galactose metabolism starts with:
Lactose
Lactose is converted into ___ via Lactase.
Galactose
Lactose is converted into Galactose via:
Lactase
Lactose breaks down into:
1) Galactose
2) Glucose
Where is Lactose broken down?
In the brush border of the small intestine
Galactose can be converted into either:
1) Galactitol
2) Galactose-1-Phosphate
Which enzyme converts Galactose to Galactitol?
Aldose Reductase
Which enzyme converts Galactose to Galactose-1-Phosphate?
Glactokinase
Galactose-1-Phosphate is converted to:
Glucose-1-Phosphate
Which enzyme converts Galactose-1-Phosphate to Glucose-1-Phosphate?
Galactokinase-1-Phosphate Uridyltransferase
Which co-factor is needed for Galactokinase-1-Phosphate Uridyltransferase to work?
UDP-Glucose
Galactokinase-1-Phosphate Uridyltransferase takes the UDP-Glucose and releases:
UDP-Galactose
Which findings are found in Galactokinase deficiency?
1) DECREASED Galactose-1-Phosphate
2) INCREASED Galactitol
What are the clinical findings of Galactokinase Deficiency?
1) Galactosemia
2) Galactosuria
3) Abnormal eye tracking
4) Lack of social smile
5) Cataracts (Infantile)
What is the mode of inheritance of Galactokinase Deficiency?
Autosomal Recessive
What is the mode of inheritance of Galactokinase Deficiency?
Autosomal Recessive
What is the Mneumonic for Galactokinase Deficiency?
GALAC:
1) Galactosemia/Galactosuria
3) Abnormal eye tracking
4) Lack of social smile
5) Autosomal Recessive
6) Cataracts (Infantile)
What accumulates in Galactokinase Deficiency?
Galactitol
Which enzyme is deficient in Classic Galactosemia?
Galactokinase-1-Phosphate Uridyltransferase
Which enzyme is deficient in Classic Galactosemia?
Galactokinase-1-Phosphate Uridyltransferase
What accumulates in Classic Galactosemia?
1) Galactitol
2) Galactose
What are the clinical findings of Classic Galactosemia?
1) Cataracts (SEVERE)
2) Liver enlargement (Hepatomegaly)
3) Autosomal Recessive
4) Sepsis (E.Coli)
5) Start of feeding (N/V/D after milk)
6) Intellectual Disability
7) Color (Yellow, Jaundice)
What are the clinical findings of Classic Galactosemia?
1) Cataracts (SEVERE)
2) Hepatomegaly
3) Jaundice
4) Sepsis
5) Nausea/Vomiting/Diarrhea after milk feeding
6) Intellectual Disability
What is the Mneumonic for Classic Galactosemia?
1) Cataracts (SEVERE)
2) Liver enlargement (Hepatomegaly)
3) Autosomal Recessive
4) Sepsis (E.Coli)
5) Start of feeding (N/V/D after milk)
6) Intellectual Disability
7) Color (Yellow, Jaundice)
What is the mode of inheritance of Classic Galactosemia?
Autosomal Recessive
Which bacteria most commonly causes sepsis in Classic Galactosemia?
E. Coli
Treatment for Classic Galactosemia?
No lactose or galactose in the diet
Which lab findings are increased in Lactose Intolerance?
1) H2 (Breath)
2) CH4
3) Organic acids
Which lab findings are decreased in lactose intolerance?
Stool pH (acidic)
What are the clinical findings of lactose intolerance?
1) Bloating
2) Gas
3) Diarrhea
What is the primary type of lactose intolerance?
The age-determinant type
Which people have the primary type of lactose intolerance?
1) African Americans
2) Asians
3) Native Americans
What is the secondary type of lactose intolerance?!!!!!
Post-viral syndrome!!!!! (Acquired damage to the intestinal brush border)
What would a biopsy of lactose intolerance show?
NORMAL intestinal mucosa
