Quiz 1 Master List Flashcards
Neimann-Pick Disease
Cause: deficiency of a-sphingolyelinase
Symptoms: hepatosplenomegaly, neuro damage, “cherry red spot” in the eye
Erythroblastosis Fetalis
Cause: Incompatibility between blood for mother and fetus with D antigen (Rh factor)
Spur Cell Anemia
Cause: elevated levels of cholesterol bound to RBC membrane
Symptoms: RBCs break their membranes when passing through capillaries of spleen
Cystinuria
Cause: defect in transporter for COLA AAs (cystine, ornithine, lysine, arginine)
Symptoms: drystone crystals or stones in the kidneys, presents with renal cholic
Hartnup Disease
Cause: defect in transporter for non-polar and/or neutral AAs
Symptoms: cerebellum ataxia, photodermatitis, photosensitivity
Cystic Fibrosis
Cause: mutation in CFTR gene
Symptoms: buildup of Cl- inside airway epithelial cells resulting in thicker mucous that leaves pt susceptible to bacterial infections
2-oxoglutaric aciduria
Cause: deficiency in a-ketoglutarate dehydrogenase
Symptoms: metabolic acidosis, severe microcephaly, mental retardation
Fumarase Deficiency
Cause: fumarase deficiency characterized by severe neurological impairment; fatal outcome within first 2 years of life
Symptoms: encephalomyopathy, dystonia, increase in urinary frequency of fumarate, succinate, a-ketoglutarate, and citrate
Pyruvate Dehydrogenase Deficiency
Cause: pyruvate dehydrogenase deficiency
Symptoms: high serum pyruvate and lactate, though the ratio of pyruvate to lactate is normal
Rat Poison (fluoroacetate)
Cause: reacts in TCA to make fluoroacetate that acts as an analogue of citrate and is a competitive inhibitor of aconitase
What is the name of Complex I and what is it inhibited by?
NADH dehydrogenase
Amytal, rotenone, myxothiazol, piericidin A (think RAMP)
What is the name of Complex II and what is it inhibited by?
Succinate dehydrogenase
Malonate
What is the name of Complex III and what is it inhibited by?
Cytochrome C reductase
Antimycin
What is the name of Complex IV and what is it inhibited by?
Cytochrome C Oxidase
CO, Cyanide, SH2
What is the name of Complex V and what is it inhibited by?
ATP Synthase
Oligomycin
Tauri Disease
Cause: deficiency in PFK-1
Symptoms: exercise-induced muscle weakness and cramps, hemolytic anemia, high bilirubin and jaundice
Fanconi-Bickel Syndrome
Cause: mutation in GLUT2 transporter, so unable to uptake glucose, fructose, and galactose
Symptoms: FTT, hepatomegaly, tubular nephropathy, and bloating, resistant rickets
F-1,6BPase Deficiency
Cause: mutations that make this enzyme defective
Symptoms: presents in infancy or early childhood as hypoglycemia, lactic acidosis, ketosis, apnea
Lactose Intolerance
Cause: deficiency in lactase
Symptoms: disturbance in GI function
Galactosemia Type I
Cause: deficiency in GALT
Symptoms: accumulation of galacitol resulting in FTT, liver failure, sepsis, and bleeding
Galactosemia Type II
Cause: deficiency in galactokinase
Symptoms: accumulation of galactose and galacitol in blood and urine
Type II Diabetes
Cause: insulin resistance due to mutations in insulin receptor and/or downstream signaling proteins
BG Criteria….
Normal: 70-100 fasting, <140 fed
Prediabetic/At Risk: 100-125 fasting, >140 fed
Diabetes Mellitus: >126 fasting, 199+ fed
GSD 0
Cause: deficiency in glycogen synthase
Symptoms: vulnerable to hypoglycemia when fasting, have muscle cramps, need to eat frequently