Membranes

Question 1

Barth syndrome

Answer 1

BTHS lysoCL (Cardiolipin) accumulates in lysosomes; Taz acyltransferase gene mutation; Sx: cardiomyopathy & neutropenia

Question 2

Multiple Sclerosis

Answer 2

Myelin sheath deteriorates to scleroses; possible viral infection precipitating the autoimmune response

Question 3

Niemann-Pick disease

Answer 3

Sphingomyelinase deficiency->sphingomyelin accumulates in lysosomes; Sx: Hepatomegaly, splenomegaly; severe mental retardation and neurodegeneration

Question 4

RDS

Answer 4

Surfactant deficiency; Dipalmitoyl phosphatidyl choline is main component in surfactant