Lysosomal Storage Disorders

Question 1

Fabry’s disease

Answer 1

XR; alpha-galactosidase-A deficiency; Ceramide trihexoside accumulation; Burning neuropathic pain in extremities, hyphidrosis, angiokeratoma, RENAL disease

Question 2

Gaucher’s

Answer 2

AR; Glucocerebrosidase deficiency; Glucocerebroside accumulation; Hepatosplenomegaly, pancytopenia, severe bone and joint pain, avascular necrosis of femur, intrasplenic lipid accumulation, Crumpled tissue paper macrophages

Question 3

Niemann-Pick

Answer 3

AR; Sphingomyelinase deficiency; Shingomyelin accumulation; Hepatosplenomegaly, cherry red spot on macula, blindness, hypotonia, Foamy histiocytes

Question 4

Tay-Sachs

Answer 4

No hepatosplenomegaly; Beta-Hexosaminidase-A deficiency; GM2 ganglioside accumulation; Ashkenazi Jews; Progressive weakness, hypotonia, loss of motor skills, abnormal startle reflex, microcephaly, terminally seizures, blindness, spasticity, cherry red spot on macula

Question 5

Krabbe’s

Answer 5

AR; Galactocerbrosidase deficiency; Galactocerebroside accumulation; Optic atrophy, peripheral neuropathy, globoid cells

Question 6

Metachromatic Leukodystrophy

Answer 6

Arylsulfatase-A deficiency; Cerebroside sulfat accumulation; Ataxia, dementia, muscle wasting

Question 7

Farber

Answer 7

Ceramidase deficiency; cermide accumulation; MR, dysphagia, hoarseness, swollen LN, swollen joints, joint contractures, breathing difficulty

Question 8

Hurler’s

Answer 8

AR; alpha-L-iduronidase deficiency; Heparan and Dermatan sulfate accumulation; Corneal clouding, hepatosplenomegaly

Question 9

Hunter’s

Answer 9

XR; Iduronate sulfatase deficiency; Heparan and Dermatan sulfate accumulation; Mild Hurler’s + Aggressive behavior, NO CORNEAL clouding