PHRD 515 – Week 1 2026 – Study Guide and Key
Concepts
-GLUT1 deficiency syndrome
-ataxia
-dyskinesia - correct answer ✔✔ GLUT1 deficiency
Fanconi-Bickel syndrome (type II diabetes) - correct answer ✔✔ Glut 2 deficiency
Type II diabetes - correct answer ✔✔ Glut 4 deficiency
Lactic Acidosis - correct answer ✔✔ lactate levels higher than 5mM
(normal is 1.2 mM)
hemolytic anemia - correct answer ✔✔ deficiency in pyruvate kinase
lead to anemia
-most common genetic defect of glycolysis
lack of ATP leads to erythrocytes to swell and lyse
Hypoglycemia and alcohol intoxication - correct answer ✔✔ ethanol becomes oxidized to
acetaldehyde producing NADH.
-NADH catalyses formation of lactate, not formation of glucose
, Pentose Phosphate Pathway - correct answer ✔✔ glucose-6-phsophate --> ribulose-5-
phosphate --> glyceraldehyde 3-phosphate and fructose-6-phosphate
1. form NADPH
2. generate D-ribose-5-phosphate for nucleic acid synthesis
3. oxidative degradation of pentoses to hexoses
thiamine pyrophosphate (TPP) - correct answer ✔✔ derivative of vitamin B1
-required in transketolases
Wernicke-Korsakoff syndrome - correct answer ✔✔ lack of thiamine or vitamin B1
paralysis of eye movements, impairment of memory, deranged mental function
caused by low thiamine diet and genetic factors (weak affinity of transketolase to thiamine)
Drug Hemolytic Anemia - correct answer ✔✔ genetic deficiency of glucose-6-P dehydrogenase
-not enough NADPH formed
-GSSG not converted to GSH
-hydrogen peroxide not removed
drugs (primaquine) undergo metabolic modifications and form peroxides
Pernicious anemia - correct answer ✔✔ Vitamin B12 absorption impairment
Sucrose - correct answer ✔✔ glucose + fructose
Concepts
-GLUT1 deficiency syndrome
-ataxia
-dyskinesia - correct answer ✔✔ GLUT1 deficiency
Fanconi-Bickel syndrome (type II diabetes) - correct answer ✔✔ Glut 2 deficiency
Type II diabetes - correct answer ✔✔ Glut 4 deficiency
Lactic Acidosis - correct answer ✔✔ lactate levels higher than 5mM
(normal is 1.2 mM)
hemolytic anemia - correct answer ✔✔ deficiency in pyruvate kinase
lead to anemia
-most common genetic defect of glycolysis
lack of ATP leads to erythrocytes to swell and lyse
Hypoglycemia and alcohol intoxication - correct answer ✔✔ ethanol becomes oxidized to
acetaldehyde producing NADH.
-NADH catalyses formation of lactate, not formation of glucose
, Pentose Phosphate Pathway - correct answer ✔✔ glucose-6-phsophate --> ribulose-5-
phosphate --> glyceraldehyde 3-phosphate and fructose-6-phosphate
1. form NADPH
2. generate D-ribose-5-phosphate for nucleic acid synthesis
3. oxidative degradation of pentoses to hexoses
thiamine pyrophosphate (TPP) - correct answer ✔✔ derivative of vitamin B1
-required in transketolases
Wernicke-Korsakoff syndrome - correct answer ✔✔ lack of thiamine or vitamin B1
paralysis of eye movements, impairment of memory, deranged mental function
caused by low thiamine diet and genetic factors (weak affinity of transketolase to thiamine)
Drug Hemolytic Anemia - correct answer ✔✔ genetic deficiency of glucose-6-P dehydrogenase
-not enough NADPH formed
-GSSG not converted to GSH
-hydrogen peroxide not removed
drugs (primaquine) undergo metabolic modifications and form peroxides
Pernicious anemia - correct answer ✔✔ Vitamin B12 absorption impairment
Sucrose - correct answer ✔✔ glucose + fructose
