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Biochemistry

Glycogen Storage Diseases

Question	Answer
Symptoms of Fabry’s	Peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease, reddish purple skin
Defective enzyme in Fabry’s	alpha-galactosidase
Substrate accumulated in Fabry’s	Ceramide trihexoside
Inheritance of Fabry’s	x-linked recessive
Symptoms of Gaucher’s	Hepatosplenomegaly, aseptic necrosis of the femur, bone crises, osteoperosis of long bones, Gaucher’s cells (macrophages that look liked wrinkled tissue paper)
Defective enzyme in Gaucher’s	beta-glucocerebrosidase
Accumulated substrate in Gaucher’s	glucocerebroside
Inheritance of Gaucher’s	autosomal recessive
Symptoms of Niemann-Pick	Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
Defective enzyme in Niemann-Pick	sphingomyelinase
Accumulated substrate in Niemann-Pick	sphingomyelin
Inheritance of Niemann-Pick	autosomal recessive
Symptoms of Tay-Sachs	Progressive neurodegeneration, developmental delay, cherry-red spot on macula, seizures, muscle weakness, lysosomes with onion skin
Defective enzyme in Tay-Sachs	Hexosaminidase A
Accumulated substrate in Tay-Sachs	GM2 ganglioside
Inheritance of Tay-Sachs	autosomal recessive
Symptoms of Krabbe’s	Peripheral neuropathy, developmental delay, optic atrophy- blindness, deafness, globoid cells (glycolipid-laden macrophages) in white matter of brain
Defective enzyme in Krabbe’s	galactocerebrosidase
Accumulated substrate in Krabbe’s	galactocerebroside
Inheritance of Krabbe’s	autosomal recessive
Symptoms of Metachromatic leukodystrophy	central and peripheral demyelination with ataxia, dementia, nerves stain yellowish-brown with cresyl violet (metachromasia)
Defective enzyme in Metachromatic leukodystrophy	Arylsulfatase A
Accumulated substrate in Metachromatic leukodystrophy	cerebroside sulfate
Inheritance of Metachromatic leukodystrophy	autosomal recessive
Symptoms of Hurler’s	developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Defective enzyme in Hurler’s	alpha-L-iduronidase
Accumulated substrate in Hurler’s	Heparan sulfate, dermatan sulfate
Inheritance of Hurler’s	autosomal recessive
Symptoms of Hunter’s	Mild Hurler’s + aggressive behavior, no corneal clouding
Defective enzyme in Hunter’s	iduronate sulfatase
Accumulated substrate in Hunter’s	heparan sulfate, dermatan sulfate
Inheritance of Hunter’s	x-linked recessive


Symptoms of Tay-Sachs	Progressive neurodegeneration, developmental delay, cherry-red spot on macula, seizures, muscle weakness, lysosomes with onion skin
Defective enzyme in Tay-Sachs	Hexosaminidase A
Accumulated substrate in Tay-Sachs	GM2 ganglioside
Inheritance of Tay-Sachs	autosomal recessive
Symptoms of Krabbe’s	Peripheral neuropathy, developmental delay, optic atrophy- blindness, deafness, globoid cells (glycolipid-laden macrophages) in white matter of brain
Defective enzyme in Krabbe’s	galactocerebrosidase
Accumulated substrate in Krabbe’s	galactocerebroside
Inheritance of Krabbe’s	autosomal recessive
Symptoms of Metachromatic leukodystrophy	central and peripheral demyelination with ataxia, dementia, nerves stain yellowish-brown with cresyl violet (metachromasia)
Defective enzyme in Metachromatic leukodystrophy	Arylsulfatase A
Accumulated substrate in Metachromatic leukodystrophy	cerebroside sulfate
Inheritance of Metachromatic leukodystrophy	autosomal recessive
Symptoms of Hurler’s	developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Defective enzyme in Hurler’s	alpha-L-iduronidase
Accumulated substrate in Hurler’s	Heparan sulfate, dermatan sulfate
Inheritance of Hurler’s	autosomal recessive
Symptoms of Hunter’s	Mild Hurler’s + aggressive behavior, no corneal clouding
Defective enzyme in Hunter’s	iduronate sulfatase
Accumulated substrate in Hunter’s	heparan sulfate, dermatan sulfate
Inheritance of Hunter’s	x-linked recessive
Which diseases are associated with Ashkenazi Jews?	Tay-Sachs, Niemann-Pick, and Gaucher's
Which diseases present with a cherry-red spot on the macula?	Niemann-Pick, Tay-Sachs
Which diseases present with peripheral neuropathy?	Fabry's, Krabbe's
Which diseases present with hepatosplenomegaly?	Gaucher's, Niemann-Pick
Which disease is the most common?	Gaucher's
Which diseases present with progressive neurodegeneration?	Niemann-Pick, Tay-Sachs, Metachromatic leukodystrophy
Angiokeratomas	Fabry's
Macrophages that look liked wrinkled paper	Gaucher's
Foam cells	Niemann-Pick
Lysosomes with onion skin	Tay-Sachs
Globoid cells	Krabbe's
Nerves stain yellow-brown with cresyl violet	Metachromatic leukodystrophy
Gargoylism	Hurler's
Aggresive behavior	Hunter's

Created by: csevilla

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