3 - More stories from the genetics clinic Flashcards
1
Q
Give 2 imprinting disorders
A
Prader-Will
Angelman
2
Q
Give 2 mitochondrial disorders
A
MELAS
LHON
3
Q
Give 2 conditions that are cause due to inborn errors in metabolism
A
phenylketonuria
MCAD deficiency
4
Q
What is heteroplasmy?
A
within a single cell, there is a mixture of mitochondria, some with containing normal DNA and some containing mutant DNA
5
Q
What does MELAs stand for?
What kind of disease is it?
A
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke
progressive neurogenerative disorder
6
Q
What is LHON?
A
(Leber’s Hereditary Optic Neuropathy)
more common in males
