Biochem - Metabolism (Lysosomal storage diseases) Flashcards
Pg. 114 in First Aid 2014 Sections include: -Lysosomal storage diseases
In general, what causes lysosomal storage diseases? What general effect do they have?
Each is caused by deficiency in one of the many lysosomal enzymes. Results in an accumulation of abnormal metabolic products.
What are 2 major categories of lysosomal storage diseases?
(1) Sphingolipodoses (2) Mucopolysaccharidoses
Name 6 examples of sphingolipodoses.
(1) Fabry disease (2) Gaucher disease (3) Niemann-Pick disease (4) Tay-Sachs disease (5) Krabbe disease (6) Metachromatic leukodystrophy
Name 2 Mucopolysaccharidoses.
(1) Hurler syndrome (2) Hunter syndrome
What are 3 clinical findings of Fabry disease?
(1) Peripheral neuropathy of hands/feet, (2) angiokeratomas, (3) cardiovascular/renal disease
What are the deficient enzyme and accumulated substrate in Fabry disease?
DEFICIENT ENZYME: alpha-galactosidase A; ACCUMULATED SUBSTRATE: ceramide trihexoside
What is the mode of inheritance for Fabry disease?
XR
What is the most common lysosomal storage disease?
Gaucher disease
What are 5 clinical findings of Gaucher disease?
(1) Hepatosplenomegaly, (2) Pancytopenia, (3) Aseptic necrosis of femur, (4) Bone crises, (5) Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)
What is the treatment for Gaucher disease?
Treatment is recombinant glucocerebrosidase
What are Gaucher cells, and how do they appear on histology?
Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)
What are the deficient enzyme and accumulated substrate in Gaucher disease?
DEFICIENT ENZYME: Glucocerebrosidase (Beta-glucosidase); ACCUMUALTED SUBSTRATE: Glucocerebroside
What is the mode of inheritance of Gaucher disease?
AR
What are 4 clinical findings of Niemann-Pick disease?
(1) Progressive neurodegeneration, (2) Hepatosplenomegaly, (3) “Cherry-red” spot on macula, (4) Foam cells (lipid-laden macrophages)
What are the deficient enzyme and accumulated substrate in Niemann-Pick disease?
DEFICIENT ENZYME: Sphingomyelinase; ACCUMULATED SUBSTRATE: Sphingomyelin; Think: “NO MAN PICKS (Niemann-Pick) his nose with his SPHINGer (Sphingomyelinase).”