Diseases Flashcards
Niemann Pick
Acid sphingomyelinase
spingomyelin build up in liver, spleen, bone marrow, and CNS
Cystic Fibrosis
CFTR
Cl- builds up in cells, Na and H2O follow
Cystine Urea
COAL transporter (Cystine, ornithine, arginine, lysine) A.A. build up and form crystals
Hartnup Disease
Non polar/neutral a.a. transporters (i.e. trp)
Build up in intestines and kidneys
Lactose Intolerance
Lactase deficient
Cannot breakdown into glucose and galactose
Lactic Acidosis
Phosphatase
Lactate build u, Acetyl CoA not created
2-oxoglutaric aciduria
alpha-ketoglutarate dehydrogenase
a-ketoglutaric acid
Fumarase Deficiency
Fumarase
Fumarate -neuro impairment, encephalomyopathy, dystonia
Succinyl CoA Synthetase Deficiency
SCS-SUCLA2 and SUCLG1 errors
Citrate and 2-hydroxyl gutarate act as oncometabolites and promote cancer growth
LUFT’s Disease
Functioning mitochondria are lacking
Leads to uncoupling of OxPhos, increase of cytochrome C oxidase, decrease coenzyme Q, high RNA content, accumulation of different sized mitochondria.
Tauri Disease
PFK-1
Fructose 6-P builds up, muscle crams, weakness, hemolytic anemia, bilirubin and jaundice
Failure of glycolysis in RBCs
ATP deficient
Disrupts ion gradient, results in hemolytic anemia
Type 1 Diabetes
pancreatic B cells are deficient, blood glucose builds up
Type 2 Diabetes
insulin response is deficient, blood glucose builds up
Hemolytic anemia
Decrease in ATP and functional enzymes, intracellular Na causes swelling and lysis
Fanconi-Bickel Syndrome
Functioning Glut 2, unable to take up glucose, fructose and galactose, glucose cannot enter cells results in failure to thrive, hepatomegaly, and bloating
F1,6BP deficiency
F1,6BPase
F1,6BP builds up, glucose cannot be made via gluconeogenesis–hypoglycemia, lactic acidosis, and ketosis
GSD1/Von Gierke Disease
G6Pase, G6P builds up in cells, hypolycemia, lactic acidosis, hepatomegaly result
Galactosemia
GALT deficient - galactitol builds up and results in failure to thrive
Galactokinase deficient - galactose and galactitol build up in the urine, results in cataracts
GSD 0
glycogen synthase deficient, hypoglycemia and muscle cramps result
GSDII/Pompe disease
Acid maltase/acid a-ketoglutarase deficient. Glycogen builds up in lysosomes, results in muscle weakness and death
GSD III/Cori disease
a-1,6-glucosidase deficient, glycogen molecules with short branches build up, results in hepatosplenomegaly and hypoglycemia
GSD IV/Andersen Disease
Glucosyl (4:6) transferase deficient, long chains with few branches build up and cause hepatosplenomegaly and cirrhosis
GSD V/McArdle Disease
Muscle glycogen phosphorylase deficient, glycogen build up, results in muscle weakness, fatigue, cramping, and breakdown
GSD VI/Hers Disease
Liver glycogen phosphorylase deficiency, glycogen builds up, low blood glucose and hepatomegaly result
Erythroblastosis fetalis
Incompatibility between blood of mother and fetus, mom is rh-, fetus is rh+
Spur Cell Anemia
Elevated levels of cholesterol in RBC, decreases membrane fluidity. When RBCs pass through capilaries in the spleen they burst.
