Metabolics = Other Conditions (TRANSFERRED)

Question 1

Reference: Genetics residents in-training examination – Fall 2020

1. Describe three common clinical findings in Glut-1 deficiency
2. What is the underlying defect in this condition?
3. List two biochemical findings that suggest this condition:
4. What is the dietary treatment of Glut-1 deficiency?
5. What is the most common mode of inheritance in this condition?

Answer 1

1. 
Epilepsy
(Complex) movement disorder
Developmental delay
Microcephaly
(there are others, use discretion)

2. There is defective transport of glucose across the blood-brain barrier into brain cells resulting in hypoglycorrhachia.
3. Low CSF glucose (<2.5)
   CSF:blood glucose ratio <0.4
   Decreased 3-O-methyl-D-glucose uptake in erythrocyte (while true, this is rarely done and not readily available)
4. Ketogenic diet
5. AD