Lysosomal storage disorders

Question 0

Krabbe’s disease

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 0

Inheritance: AR
Missing enzyme: galactosylceramide and galactoside
Buildup: galactocerebroside in the brain

Symptoms:

• progressive CNS degeneration
• optic atrophy
• spasticity
• death within first 3 years of life

Question 1

Fabry’s disease

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 1

Inheritance: X-linked recessive
Missing enzyme: a-galactosidase A
Buildup: ceramide trihexoside in brain, heart, kidneys

Symptoms:
-severe neuropathic limb pain
-joing swelling
angiokeratomas and telangiectasias
-renal failure
-increased risk of stroke and MI

Question 2

Gaucher’s disease

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 2

Inheritance: AR
Missing enzyme: glucocerebrosidase
Accumulation: glucocerebroside in brain, liver, spleen, bone marrow

Symptoms:

• Gaucher’s cells: crinkled paper apperance w/ enlarged cytoplasm
• anemia and thrombocytopenia
• infant form: early, rapid neurologic decline
• adults form: more common; compatible with a normal life span, does not affect brain

Question 3

Niemann-Pick disease

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 3

Inheritance: AR
Missing enzyme:sphingomyelinase
Buildup: sphingomyelin in reticuloendothelial cells and parenchymas cells and tissues

Symptoms:

• type A: die by age 3
• cherry red spot and hsm

Question 4

Tay-Sachs disease

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 4

Inheritance:
Missing enzyme: hexosaminidase
Buildup: GM2 ganglioside

Symptoms:

• appear normal until 3-6 months
• weakness and development slows and regresses
• exaggerated startle response
• death by age 3
• cherry-red spot but no hsm (differentiates from Niemann-Pick)

Question 5

Metachromatic leukodystrophy

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 5

Inheritance: AR
Missing enzyme: arylsulfatase A
Buildup: sulfatide in the brain, kidney, liver, peripheral nerves

Symptoms:
-demyelination leads to progressive ataxia and dementia

Question 6

Hurler’s syndrome

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 6

Inheritance: AR
Deficiency: a-L-iduronidase
Symptoms: corneal clouding, mental retardation, gargoylism

Question 7

Hunter’s syndrome

• inheritance
• missing enzyme
• buildup
• symptoms

Answer 7

Inheritance: X-linked recessive (Hunter’s need to see and aim for the X)
Deficiency: iduornate sulfatase
Symptoms: mild form of Hurler’s w/ no corneal clouding and mild mental retardation