Lysosomal Storage Diseases/Poisoning Flashcards
Progressive neurodegeneration
Developmental delay
Cherry-red spot on macula
“Onion skin” lysosomes
Tay-Sachs
Hexoseaminidase A deficiency
GM2 ganglioside accumulation
Treatment ERT
Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells
Krabbe’s Disease
Galactocerebrosidase B deficiency
Galacocerebroside accumulates in macrophages (globoid cells)
Accumulation of toxic phychosine
Treatment BMT
atrophic white matter with preservation of U cells
Central/Peripheral demyelination
Ataxia
Dimentia
Metachromatic Leukodystrophy
Arylsulfatase A deficiency
Cerebroside sulfate (metachromatic lipids) accumulation
Treatment BMT
Dimentia
Visual/Hearing loss
Seizures
Adrenal insufficiency
Adrenoleukodystrophy
Very long chain fatty acyl coA synthetase deficiency in peroxisomes
Long FA accumulation
X linked
Adrenal insufficiency
Progressive leg clumsiness/weakness/spastic paraplegia
Adrenomyeloneuropathy
Very long chain fatty acyl coA synthetase deficiency in peroxisomes
Long FA accumulation
Inattentiveness
Short-term memory impairment
Asterixis
Confusion/Stupor/Coma
Hepatic encephalopathy
Partially due to hyperammonemia
Effects globus pallidus, subthalamus, midbrain
Cerebral edema
“Alzheimer type II astrocytes”
Headache Irritability Incoordination Confusion Stupor/Coma
Hypoglycemia
Temporal, occipital, insular, hippocampal and basal ganglia changes
MERRF
Myoclonic epilepsy with ragged red fibers
heteroplasmic point mutation in mt-tRNA-LYS
Kearns-Sayre Syndrome
large single mtDNA mutation
pigmentary retinopathy and ophthalmoplegia
Leigh’s Disease
Nuclear or mitochondiral DNA mutation
Decreased cytochrome C oxidase
Lactic acidemia
Peri-aqueductal grey destroyed
CO poisoning CNS damage
Globus pallidus and substantia nigra necrosis
White matter degeneration
