Genetics

Question 1

What is Pompe disease?

Answer 1

Pompe disease is caused by a deficiency in the lysosomal enzyme GAA (acid α-glucosidase) and leads to hypotonia, left ventricular enlargement, and heart failure with normal fasting blood glucose levels

Question 2

What is phenylketonuria?

Answer 2

Deficiency in phenylalanine hydroxylase (PAH)

Presents with foul-smelling odor, eczematous rash, and developmental delay

Question 3

What is DiGeorge syndrome?

Answer 3

microdeletion 22q11.1
murmur @ LS border, boot-shaped heart, aplasia of thymus

Question 4

What does DiGeorge syndrome present with?

Answer 4

CATCH-22
- cardiac defects
- abnormal facies
- thymic hypoplasia/aplasia
- cleft lip
- hypocalcemia
- 22 chromosome microdeletion