Cramming 5 Flashcards
What does Ca++/calmodulin do in the muscle with regard to glycogen?
Activates glyogen phosphorylase kinase to cause glycogenolysis.
Gaucher’s disease: defective enzyme? mode of inheritance?
galactocerebrosidase; AR
Tay-Sachs disease: defective enzyme? accumulated substrate?
hexosaminidase; GM2 ganglioside
Gaucher’s disease: Sx?
heptospleomegaly, bone crises
Tay-Sachs: Sx?
cherry red macular spot, motor retardation, progressive neurodegeneration
Niemann-Pick disease: Sx?
progressive neurodegeneration, cherry red macular spot, hepatosplenomegaly
Niemann-Pick disease: defective enzyme?
sphingomyelinase
What are the only 2 X-linked recessive lysosomal storage diseases?
Fabry’s disease and Hunter’s syndrome
What is the defective enzyme in Fabry’s disease? accumulated substrate?
α-galactoside A; ceramide trihexose
What are the Sx of fabry’s disease?
peripheral neuropathy, angiokeratomas, CV/renal disease
What sphingolipidosis is associated with “crumpled tissue paper” MΦs?
Gaucher’s disease
What are the Sx of Krabbe’s disease?
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
What is the defective enzyme, accumulated substrate in Krabbe’s disease?
galactocerebrosidase, galactocerebroside
What are the Sx of metachromic dystrophy?
central and peripheral demyelination with ataxia, dementia
What is the defective enzyme, accumulated substrate in metachromic dystrophy?
Arylsulfatase A; cerebroside sulfate
What are the Sx of Hurler’s syndrome?
dev. delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
What is the defective enzyme, accumulated substrate in hurler’s syndrome?
α-L-iduronidase; heparan sulfate, dermatan sulfate
What are the Sx of i-cell disease?
similar to hurler’s, recurrent respi tract inf; death by age 7
What are the defective enzyme and accumulated substrate in I-cell disease?
Glc-NAc phosphotransferase; undegraded glycoconjugates in lysosomes
What are the Sx of hunter’s syndrome?
Like Hurler’s but milder - corneal clouding + aggressive behavior
What is the defect/accumulated substrate in Hunter’s syndrome?
Iduronate sulfatase; heparan sulfate, dermatan sulfate
What sphingolipidosis is associated w/ foamy macrophages and zebra bodies?
Niemann-Pick
What sphingolipidosis is associated with onion-skin lysosomes?
Tay-Sachs
