Lysosomal Storage Diseases Flashcards
What enzyme is deficient in Tay-Sachs disease?
Hexosaminidase A
What substrate accumulates in Tay-Sachs disease?
GM2 ganglioside
What are the clinical features of Tay-Sachs disease?
Progressive neurodegeneration, Cherry-red macula, Infantile onset, No hepatosplenomegaly
What enzyme is deficient in Gaucher disease?
Glucocerebrosidase
What substrate accumulates in Gaucher disease?
Glucocerebroside
What are the clinical features of Gaucher disease?
Hepatosplenomegaly, Bone pain and fractures, Gaucher cells (macrophages with lipid inclusions), Type 1 (non-neuronopathic) most common
What enzyme is deficient in Niemann-Pick disease?
Sphingomyelinase
What substrate accumulates in Niemann-Pick disease?
Sphingomyelin
What are the clinical features of Niemann-Pick disease?
Hepatosplenomegaly, Cherry-red macula, Neurodegeneration, Foamy macrophages, Fatal by age 3
What enzyme is deficient in Fabry disease?
Alpha-galactosidase A
What substrate accumulates in Fabry disease?
Ceramide trihexoside
What are the clinical features of Fabry disease?
Angiokeratomas, Peripheral neuropathy, Cardiovascular and renal disease
What enzyme is deficient in Krabbe disease?
Galactocerebrosidase
What substrate accumulates in Krabbe disease?
Galactocerebroside
What are the clinical features of Krabbe disease?
Severe developmental delay, Psychomotor regression, Optic atrophy, Globoid cells
What enzyme is deficient in Hurler syndrome?
Alpha-L-iduronidase
What substrate accumulates in Hurler syndrome?
Heparan sulfate, Dermatan sulfate
What are the clinical features of Hurler syndrome?
Developmental delay, Gargoylism, Hepatosplenomegaly, Corneal clouding, Airway obstruction
What enzyme is deficient in Hunter syndrome?
Iduronate-2-sulfatase
What substrate accumulates in Hunter syndrome?
Heparan sulfate, Dermatan sulfate
What are the clinical features of Hunter syndrome?
Mild Hurler syndrome with aggressive behavior, No corneal clouding
What enzyme is deficient in Pompe disease?
Acid alpha-glucosidase (acid maltase)
What substrate accumulates in Pompe disease?
Glycogen
What are the clinical features of Pompe disease?
Cardiomegaly, Muscle weakness, Hypotonia, Early death due to heart failure in infantile form
What enzyme is deficient in Zellweger syndrome?
Peroxisomal enzymes
What substrate accumulates in Zellweger syndrome?
Very long-chain fatty acids (VLCFAs)
What are the clinical features of Zellweger syndrome?
Hypotonia, Seizures, Developmental delay, Hepatomegaly, Dysmorphia
What enzyme is deficient in Metachromatic Leukodystrophy?
Arylsulfatase A
What substrate accumulates in Metachromatic Leukodystrophy?
Sulfatides
What are the clinical features of Metachromatic Leukodystrophy?
Progressive neurodegeneration, Psychomotor regression, Ataxia, Peripheral neuropathy
A deficiency of________________________ is the cause of Gaucher disease, an autosomal recessive lysosomal storage disease. Type I, non-neuronopathic Gaucher disease manifests with hepatosplenomegaly, bone pathology, anemia, thrombocytopenia, and growth delays.
A deficiency of β-glucocerebrosidase is the cause of Gaucher disease, an autosomal recessive lysosomal storage disease. Type I, non-neuronopathic Gaucher disease manifests with hepatosplenomegaly, bone pathology, anemia, thrombocytopenia, and growth delays.
hexosaminidase
tay sachs
alpha galactosidase A
Fabry
Glucocerebrosidase
Gaucher
sphingomyelinase
niemann pick
Osteolytic bone lesions, hepatosplenomegaly, anemia, thrombocytopenia, developmental delay, and lipid-filled macrophages
Gaucher disease
