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18 Cards in this Set

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What enzyme is deficienct in Fabry's disease?

What is accumulated substrate?
1) Alpha-glucosidase A
2) Ceramide trihexosidase
What is genetic inheritance of Fabry's disease?
Sex-linked recessive (like Lesch-Nyan Syndrome)
What are some findings of Fabry's disease?
1) Peripheral neuropathy
2) Clusters of purplish-red hyperkeratotic skin lesions on skin, umbilicus, buttocks, and scrotum. --> Angiokeratomas
3) HTN
4) Renal Failure --> MC COD
What enzyme is deficient in Gaucher's disease?

What is the accumulated substrate?
1) B-glucocerebrosidase

2) Glucocerebrosidase
What are the symptoms of Gaucher's disease?
Hepatosplenomegaly!

Aseptic necrosis of femur

Bone Crisis

Gaucher's cells (macrophages)
What enzyme is deficient in Niemann-Pick disease?

What is accumulated?
Sphingomyelinase

Sphingomyelin
What are symptoms of Niemann-Pick Disease?
Neurodegeneration

Hepatosplenomegaly

Cherry red spot (on macula)
What enzyme is deficient in Tay Sachs disease?
Hexosaminidase A

Build up of GM2 ganglioside.
What are symptoms of Tay-Sachs disease?
Neurodegeneration

Developmental Develop

Cherry red spot/Blindness

NO Hepatomegaly because only involves CNS!!!
What enzyme is deficiency in Krabbe's disease?
B-galactosidase

Galactocerebrosidase accumulate
What are some symptoms of Krabbe's disease?
Peripheral neuropathy

Developmental delay

Abnormal synthesis of white matter: demyelination.
What is enzyme deficiency of metachromatic leukodystrophy?
Arylsulfatase A

Buildup of cerebroside sulfate
What are symptoms of metachromatic leukodystrophy?
Central and peripheral demyelination with ataxia and dementia.
What is deficiency of Hurler's syndrome?
Alpha-L-iduronidase

Buildup of herparan sulfate, dermatan sulfate
What are symptoms of Hurler's syndrome?
Developmental delay, gargoylism, airway obstruction, corneal clouding, CAD, hepatosplenomegaly!
What enzyme is deficient in Hunter's syndrome?
Iduoronate sulfatase

Buildup of heparan sulfate, dermatan sulfate
What are symptoms of Hunter's syndrome?
Mild Hurler's + agressive behavior, no corneal clouding.
What is genetic inheritance of Hunters?
X-linked recessive.