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Biochemistry

Glycogen Storage Diseases

QuestionAnswer
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