Random Disorders (lysosomal, etc.) Flashcards
Lesch-Nyan
=hypoxanthine guanine phosphoribosyl transferase deficiency
(purine salvage pathway)
Sx:
- Hyperuricemia
- Gout
- Pissed off (aggressive, self mutilation)
- R
etardation
* dysTonia
Therefore de novo purine
X-linked
Von Gierke disease
Type I
= glucose-6-phosphatase deficiency
Sx:
- Severe fasting hypoglycemia
- Hepatomegaly
AR
Pompe’s disease
Type II
= lysozomal alpha-1,4-glucosidase
Sx:
- Heart failure
- Early death
Cori disease
Type III
= debanching enzyme deficiency (alpha-1,6-glucosidase)
Sx:
- Milder type I
- Normal lactate
AR
McArdle Disease
Type V
=Skeletal muscle glycogen phosphorylase deficiency
Sx:
- Cramps with exertion
- Arrhythmias
- Myoglobinuria
AR
Gaucher disease
= Glucocerebrosidase deficiency
Glucocerebroside buildup
Sx:
- HSM
- Pancytopenia
- Bone crisis
- Aseptic femur necrosis
- Histo: Tissue paper cells
AR
Nieman-Pick disease
= Sphingomyelinase deficiency
Sphingomyelin
Sx:
- Neurodegeneration
- Cherry red macula
- HSM
- Foam cell
AR
Fabry disease
= alpha-galactosidase A deficiency
Ceremide trihexoside
Sx:
- Acroparesthesia
- Angiokeratoma
- Cardiovascular disease
- Renal disease
XR
Tay-Sachs disease
= hexosamnidase A
GM2 ganglioside
Sx:
- Neurodegeneration
- Developmental delay
- Cherry red spot
- Histo: lysosome with onion skin
- No HSM
AR
Krabbe disease
= Galactocerebrosidase deficiency
Galactocerebroside, psychosine
Sx:
- Peripheral neuropathy
- Developmental delay
- Optic atrophy
- Globoid cells
AR
Metachromatic leukodystrophy
= Aryl sulfatase A
Cerebroside sulfate
Sx:
- Central/peripheral demyelination
- Ataxia
- Dementia
AR
Hurler syndrome
=Alpha-L-iduronidase
Heparin sulfate, dermatan sulfate
Sx:
- Developmental delay
- Gargoylism
- Corneal clowding
- HSM
AR
Hunter syndrome
= Iduronate sulfate deficiency
Heparin sulfate, dermatan sulfate
Sx:
- mild hurler
- Aggressive behavior
- No corneal clouding
XR
