Glycobiology in Human Disease III Flashcards
In later stages, deafness, blindness, absent reflexes, and muscle rigidity (spasticity) will ensue.
Krabbe Disease
Children with Krabbe disease will die by age
2
The pathogenesis is exactly the same, and both juvenile and late-onset are hallmarked by
Globoid cells in white matter
X-linked recessive, meaning males are more likely to be affected
Fabry Disease
Fabry disease is due to a deficiency of the enzyme
Alpha-galactosidase A
Due to a deficiency of the enzyme alpha-galactosidase A leading to an accumulation of ceramide trihexoside
Fabry Disease
Symptoms begin in childhood and worsen throughout adulthood
Fabry Disease
Symptoms include acroparesthesias, full body pain, renal failure, cardiomyopathy, hypertension, and severe fatigue
Fabry disease
\Unique skin findings include angiokeratomas (benign cutaneous lesions of capillaries) and either anhidrosis (lack of sweating) or hyperhidrosis (excessive sweating)
Fabry Disease
The leading cause of death in patients with Fabry disease
Cardiac compications
An autosomal recessive disorder caused by a deficiency in arylsulfatase
Metachromatic Leukodystrophy
Deficiency of arylsulfatase leads to a build up of
Cerebroside sulfate
Deficiency of arylsulfatase leads to a build up of cerebroside sulfate. This accumulation is especially prevalent within the cells of the
Nervous system
Characteristic signs of metachromatic leukodystrophy may include
Ataxia, peripheral neuropathy, and dementia
The most common form of Metachromatic leukodystrophy occurs around age
2
