Organelle Disorders Flashcards
Sphingolipidoses
Tay-Sachs, fabry, meachromatic leukodystrophy, gaucher, niemann pick
Tay-Sachs
Hexosaminidase A: GM2
AR
Neurodegeneration, cherry red macula, no hepatosplenomegaly
Fabry
Alpha-galactosidase A: ceramide trihexoside
XR
Triad: neuropathy, angiokeratomas, hypohidrosis
Metachromatic Leukodystrophy
Arylsulfatase A: cerebroside sulfate
AR
Demyelination, ataxia, dementia
Krabbe
Galactocerebrosidase: galactocerebroside
AR
Peripheral neuropathy
Gaucher
Glucocerebrosidase: glucocerebroside
AR
Hepatosplenomegaly
Niemann-Pick
Sphingomyelinase: sphingomyelin
AR
Neurodegeneration, hepatosplenomegaly, foam cells cherry red macula
Proteoglycans
Protein + GAGs via o-linkages In ECM
GAGs made of two repeating subunits
Synthesized in ER and Golgi, degraded in lysosomes
Lysosomal Degradation disease
Hurler, hunter
Hurler syndrome
MPS I, corneal clouding, dwarfing, coarse facial features, hearing loss
Enzyme replacement
Hunter syndrome
x linked MPS II
No corneal clouding, physical deformity, mental retardation
Enzyme replacement
I cell disease (mucolipidosis II)
Lysosomal storage disease
Missing all hydrolytic enzymes in lysosomes
Forms inclusions of undigested substrates
Coarse facial features, clouded corneas, restricted joint movement
Missense mitochondrial disease
MtDNA
LHON
Single base mitochondrial
TRNA
MERRF, MELAS
Duplications/deletions mitochondrial
Kearns-sayre, pearson syndrome, CPEO
