Inborn Errors: Glycolipid Disorders Flashcards
Most lysosomal storage disorders are autosomal recessive. There are three exceptions, however: ______________.
Fabry (XLD), Hunter (XLR) –men hunt, get it? – and Danon (XLD)
Clinically, “cherry-red spots” in the eye are indicative of ____________.
Tay-Sachs
A patient presents with burning of the hands and feet during fever. What is this symptom called and what disease does it represent?
Acroparesthesia; Fabry
What enzyme is defective in a patient presenting with an LSD and proteinuria?
Alpha-galactosidase (being Fabry)
Neurologic symptoms are not ______________.
specific to LSDs
The histologic buzzword for Gaucher is _____________.
“crumpled tissue paper” in a macrophage
Looking at the face of someone with a lysosomal storage disorder, you might pick up on these findings: ________________.
macroglossia, coarseness (full lips and flushed skin), gingival hypertrophy
The Erlenmeyer-flask-shaped femur is indicative of _______________.
Gaucher
Angiokeratomas present in which condition?
Fabry
What is the “cherry-red spot” present in Tay-Sachs?
It is an accumulation of lipids in the neurons surrounding the macula. The excess lipid makes the surrounding area look white, so the center looks cherry-red.
___________ are acidic, hydrolase-containing organelles.
Lysosomes
What molecule serves as a signal for enzymes to be moved into lysosomes?
Mannose 6-phosphate
Proteinuria is found in which LSD?
Fabry (alpha-galactosidase)
List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Gaucher.
IP: AR
Enzyme: beta-glucosidase (aka glucocerebrosidase)
Organs: liver (hepatomegaly), spleen (splenomegaly), bone (Erlenmeyer-flask femurs)
Treatment/prognosis: enzyme replacement; will live normal life
List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Tay-Sachs.
IP: AR
Enzyme: beta-hexosaminidase
Organs: eyes (“cherry-red” spot), brain (CNS impairment)
Treatment/prognosis: no treatment; will die
List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Fabry.
IP: XLD
Enzyme: alpha-galactosidase
Organs: kidneys (renal failure), heart (restrictive cardiomyopathy), eyes (“whorl” corneas), skin (angiokeratomas), acroparesthesia (painful tingling/warmth of hands)
Treatment/prognosis: enzyme replacement; fatal around 40 without
List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Hunter.
IP: XLR
Enzyme: iduronate sulfatase
Organs:
Treatment/prognosis: enzyme replacement
List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Hurler.
IP: AR
Enzyme: alpha-iduronidase
Organs: tongue (macroglossia), CNS, vocal cords (hoarse voice!!)
Treatment/prognosis: enzyme replacement; fatal without
List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of McArdle.
IP: AR
Enzyme: glycogen phosphorylase
Organs: muscles (cramping after exercise), GU (myoglobinuria after exercise)
Treatment/prognosis: sucrose with exercise
List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Pompe.
IP: AR
Enzyme: alpha-1,4-glucosidase
Organs: heart (cardiomyopathy), muscle (weakness with exercise)
Treatment/prognosis: enzyme replacement; fatal without
