DM Week 2 Flashcards
Which compound inhibits succinate dehydrogenase?
Malonate
Which compound inhibits aconitase?
Fluoroacetate
Thiamine Pyrophosphate requires which co-factor?
Vitamin B1 (Thiamine)
Which are the high energy compounds of phosphate?
Phosphoenolpyruvate
1,3 Bisphosphoglycerate
Phosphocreatine
Complex 1 of Electron transport chain
NADH dehydrogenase
Complex 2 of electron transport chain
Succinate Dehydrogenase
Complex 3 of electron transport chain
Cytochrome c reductase
Complex 4 of electron transport chain
Cytochrome c oxidase
Inhibitor of ATP synthase complex
Oligomycin
Inhibitors of NADH dehydrogenase (3 count)
Rotenone
Amytal
Piericidin A
Inhibitors of Cytochrome Reductase
Antimycin A
Inhibitors of Cytochrome Oxidase (4 count)
Cyanide
Azide
Carbon Monoxide
Hydrogen Sulfide
Atracyloside binds to which side of the ANT transporter?
Outward facing portion (inter membrane space)
Bongkrekic Acid binds to which side of the ANT transporter?
Inward facing portion (matrix)
2 types of uncouplers
DNP (2,4-Dinitrophenol)
ASA (aspirin)
-Dissipate H+ gradient, no ATP generation, Increase oxygen utilization; Cause hyperthermia
Hereditary mitochondrial disease associated with defect in Complex I
Leber’s Hereditary Optic Neuropathy
Aminoglycoside antibiotics causes what in early childhood?
Deafness
Disease presentation:
-Paralysis of eye muscles and degeneration of retina
* Cardiac problems or congestive heart failure
* Muscle and skeletal weakness
* Ataxia (coordination problems)
* Diabetes, dementia and other mental illnesses
Kearns-Sayer
-Due to deletion in mitochondrial DNA
Clinical Features: Strokes, myopathy (weak muscles), muscle twitching,
dementia, and deafness
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and
Stroke-like episodes (MELAS)
Myoclonus is usually the first symptom
followed by:
– Seizures, ataxia, muscle weakness, worsening
eye sight and hearing loss
Myoclonic Epilepsy; Ragged Red Fibers (MERRF)
Liver Aldolase B deficiency
Hereditary Fructose Intolerance
Continued dietary fructose/ sucrose/ sorbitol → hepatocellular
failure and jaundice
* Urinalysis shows reducing sugar (fructose) that is NOT glucose
Hereditary Fructose Intolerance
-Eliminate Fructose and sucrose from the diet
Aldose Reductase is present in which organs?
rich in lens, retina, peripheral
nerves and seminal vesicles
Classical triad: liver damage, developmental
delay and cataracts
* Urine positive for reducing sugar (not glucose)
Classical Galactosemia
-Deficiency in Galactose 1-phosphate uridyl transferase (GALT)
Substrate for galactitol formation and enzyme needed?
From galactose, enzyme needed is aldose reductase
Galactose 1-phosphate buildup is due to which enzyme deficiency?
Galactose 1-phosphate uridyl transferase (GALT)
Enzyme deficiency in non-classical galactosemia and presentation
Galactokinase, cataracts only formed
Urine dipstick shows reducing sugar but no clinical symptoms. What is the disease?
Benign Fructosuria
Enzyme that plays active role in lipolysis
Hormone Sensitive Lipase
What state stimulates hormone sensitive lipase?
Low levels of insulin (fasting state)
Beta-oxidation occurs in which organelle?
Mitochondria
Which disease is characterized by hypoglycemia and hypoketosis and fatty acids in the urine?
Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency
Labs show: Elevated serum CK-MM and myoglobin in urine: Skeletal muscle damage
* Lipid droplets in muscle biopsy
-Muscle weakness and cardiomyopathy
Which disease is likely?
Myopathic carnitine deficiency
Unable to tolerate aerobic activity (Cramps during aerobic exercise)
– Lipid deposits (triglycerides) in skeletal muscle
– Myoglobinuria and elevated serum CK-MM levels
– Affects muscle isoform
CPT-II Deficiency
Contains ‘hypoglycin A’ - inhibitor of MCAD,
from eating unripe akee fruit
Jamaican Vomiting Sickness
Acetoacetate, 3-hydroxybutyrate (-
hydroxybutyrate) and acetone are what kind of molecules?
Ketone bodies
Ketogenesis requires which enzyme?
Mitochondrial HMG CoA synthase
Which 2 amino acids are exclusively ketogenic?
Leucine and Lysine
What is the rate limiting step for cholesterol synthesis?
HMG CoA reductase
What is the coenzyme needed for cholesterol synthesis?
NADPH
Amino Acid precursor to serotonin
Tryptophan
Anti-cancer drug that is a folate analog and inhibits the formation of active tetrahydrofolate
Methotrexate
Amino acid involved with methylmalonic aciduria
Valine
Enzyme that produces glutamine in the brain
Glutamine Synthetase
Enzyme that produces ammonia in the kidney renal tubules
Glutaminase
Enzyme needed to form free ammonia
Glutamate dehydrogenase
Compounds that require Vitamin B1/Thiamine Pyrophosphate for cofactor
1) Alpha-Ketoglutarate Dehydrogenase
2) Pyruvate Dehydrogenase
3) BC alpha-Keto acid Dehydrogenase
