3 - More stories from the genetics clinic Flashcards Preview

MCD- Genetics > 3 - More stories from the genetics clinic > Flashcards

Flashcards in 3 - More stories from the genetics clinic Deck (6)
Loading 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