FA/Phospholipid Synthesis Diseases (Lysosomal Storage Diseases or Sphingolipidoses)

Question 1

Niemann-Pick disease

Answer 1

no sphingomyelinase

sphingomyelin builds up (because you can’t break it down)

mental retardation, hepatosplenomegaly, fatal early in life

Question 2

Farber’s disease

Answer 2

no ceramidase

ceramide builds up (because you can’t break it down)

painful/deformed joints

fatal early in life

Question 3

Generalized Gangliosidosis

Answer 3

no β-galactosidase

build-up of GM1

mental retardation
hepatomegaly
skeletal deformities

fatal

Question 4

Tay-Sachs Disease

Answer 4

no HexA enzyme activity

build up of GM2
build up of GA2 (but less than of GM2)

S&S --
MR
Blindness
Muscular Weakness
Seizures

Cherry Red Spot in the Back of the Eye

Autosomal Recessive
FATAL

Question 5

Sandhoff’s disease

Answer 5

no HexA or Hex B enzyme activity

build-up of globoside

S&S: same as Tay-Sach's, but faster progression
MR
Blindness
Muscular Weakness
Seizures
Autosomal Recessive
FATAL

Question 6

Fabry’s disease

Answer 6

no α-galactosidase

build-up of cer-glc-gal-gal

red/purple skin rash
kidney failure
lower extremity pain

X-linked recessive

NOT fatal

Question 7

Lactosyl-ceramidosis

Answer 7

no β-galactosidase

Braun damage
Hepatosplenomegaly

build-up of lactosyl-ceramide

Question 8

Gaucher’s disease

Answer 8

no β-glucosidase

build-up of glucocerebroside

hepatosplenomegaly
erosion of long bones/pelvis
mental retardation(infant)

Question 9

Metachromatic Leukodystrophy

Answer 9

no arylsulfatase

build-up of sulfatide

mental retardation/demylination
paralysis
dementia

Question 10

Krabbe disease

Answer 10

no β-galactosidase

build-up of ceramide-gal

mental retardation
total absence of myelin
particle accumulation in the brain