Peroxisomes Flashcards
1
Q
Function of Peroxisomes
A
Degradation of VLCFA
Synthesis of cholesterol and steroids.
2
Q
Peroxisomal diseases mainly affects
A
Nervous system (Less severe than Lysosomal Storage diseases)
3
Q
Zellweger syndrome is caused by
A
PEX mutation that causes diminished Peroxisomes
4
Q
Zellweger syndrome clinical features
A
Facial abnormalities + Hepatomegaly + Seizures
5
Q
Inheritance pattern of peroxisomal diseases
A
Autosomal Recessive (Except X-Linked Adrenoleukodystrophy)
6
Q
X-Linked Adrenoleukodystrophy can debut with
A
ADRENAL INSUFFICENCY (Hypotension, Hypoglycemia)
7
Q
Refsum disease
A
Similar to Zellweger, caused by deficient myelination
