LSD-INBORN ERRORS OF METABOLISM AFFECTING CNS

Question 1

aka Globoid Cell Leukodystrophy

Deficiency of galactosylceramidase

Answer 1

Krabbe’s Disease

Question 2

deficiency of arylsulfatase A

Leads to accumulation of sulfitides, especially galactosylsulfatide

Answer 2

Metachromatic Leukodystrophy

Question 3

progressive disease w/ symptoms due to myelin loss in CNS and PNS; associated with adrenal insufficiency

Answer 3

Adrenoleukodystrophy