Inborn Errors: Glycolipid Disorders Flashcards
molecules that contain both carbohydrate and lipid components.
roles in cell signaling, cell membranes, and as an energy source.
Glycolipids
Onset of storage disease
Gradual accumulation over time
Most inherited in autosomal recessive manner, which ones are not?
Fabry (~XLD), Hunter (XLR), and Danon disease (XLD) are exceptions
Lysosomal Storage Disease pathology
Swollen lysosome –>swollen cell –> cell dysfunction –> organ dysfunction
Lysosomal Storage Disease
each are rare, but all together 1:5,000
Complications
- blindness, will die
- cherry red spot
Tay Sachs
acroparethesias, angiokeratomas
Renal failure
Fabry
What does storage disorder look like?
HEENT
Skin: coarseness
Skull (Brain): macrocephaly
Eyes: corneal clouding, cherry red spot
Ear/Nose/Throat: macroglossia, sleep apena
What does storage disorder look like?
body
Liver: hepatosplenomegaly
Kidneys: progressive renal failure + proteinuria (Fabry disease)
Skeletal: dysostosis multiplex, joint stiffness, short stature
Skin: coarseness
Gaucher Disease type I x ray
erlenmeyer flask deformity of femur
marrow infiltration
Will lead to anemia
Tay Sachs eye balls
cherry red spot on retina
this is an early sign, advanced disease this will disappear
A 25 year-old woman with a history of hepatosplenomegaly with eventual splenectomy, bone and joint pain, and a liver biopsy that showed wrinkled-looking cells (‘or foamy macrophages’) with accumulations of glucosylceramides. The most likely diagnosis is:
A) Fabry disease B) Farber disease C) Gaucher disease D) Krabbe disease E) Niemann-Pick disease
C) Gaucher disease
Mucopolysaccharidoses are inherited storage diseases caused by:
an increased rate of synthesis of proteoglycans
the synthesis of polysaccharides with an altered structure
defects in the degradation of proteoglycans
the synthesis of abnormally small amounts of protein cores
an insufficient amount of proteolytic enzymes
defects in the degradation of proteoglycans
A 13 month-old child who died at home had been suffering from cardiomegaly and progressive muscle weakness for the past five months. Prior to death his electrocardiogram showed rapid conduction time and wide amplitude QRS complex. A skeletal muscle biopsy showed elevated glycogen. Of the following, the most likely diagnosis is:
Fabry Disease Hurler disease Pompe disease Tay-Sachs disease Von Gierke’s disease
Pompe disease
A 13 month-old child who died at home had been suffering from cardiomegaly and progressive muscle weakness for the past five months. Prior to death his electrocardiogram showed rapid conduction time and wide amplitude QRS complex. A skeletal muscle biopsy showed elevated glycogen. Which of the following enzymes is most likely to be deficient?
Alpha-galactosidase Alpha-glucosidase Alpha-iduronidase Glucocerebrosidase Sphingomyelinase
Alpha-glucosidase
An 18 year-old man complains of a multi-year history of recurrent painful episodes involving his palms and the soles of his feet. He also has a history of irritable bowel syndrome and has been hospitalized twice for heat-intolerance this past summer. His past medical history is remarkable for two clavicular fractures, myopia, and one hospitalization for pneumonia. Which of the following tests is most likely to reveal his diagnosis?
24-hour urine collection and urinary creatinine measurement
Alpha-galactosidase activity in leukocytes
Bone survey X-rays
Echocardiogram
Serum ionized calcium
Alpha-galactosidase activity in leukocytes
