Case Presentation
A case study in
Carbohydrate
Metabolism
Agbuya | Isidro | Magluyan | Sarion | Tariga |
Tolentino | Valenton
MTY1109 - SEC 27
Contents
CASE STUDY
BIOCHEMICAL MECHANISM
CLINICAL CORRELATION
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• Patients may notice fatigue, dizziness from the anemia, and dark colored from the
bilirubinuria.
• Confirmation of hemolysis can be obtained by the peripheral blood smear revealing
fragmented red blood cells, or increased serum bilirubin or decreased serum haptoglobin.
• The Coombs tests can assess for immunoglobulin on the red blood cell or circulating in
the serum.
• Typically, hemolysis of the erythrocyte is associated with increased levels of RBC
precursors in the bone marrow and thus immature forms of the erythrocytes in the
bloodstream; therefore, an increased reticulocyte concentration supports the increased
destruction of red blood cells.
GUIDE QUESTION 1
What is Pyruvate Kinase
Deficiency?
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How is Pyruvate Kinase
Deficiency inherited?
What gene is responsible for the
expression of PK enzyme?
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GUIDE QUESTION 2
glykys
Energy Investment Phase
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STEP 1
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STEP 2
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STEP 3
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STEP 4
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STEP 5
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Energy Production Phase
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STEP 6
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STEP 7
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STEP 8
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STEP 9
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STEP 10
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Metabolism of Glucose in Erythrocytes
GUIDE QUESTION 3
Glycolytic Pathway
GUIDE QUESTION 3
How Erythrocytes Metabolized
GUIDE QUESTION 3
ATP release
from RBC's
increases
blood flow
ATP couples
deformability
and
modulation of
adhesivity
ATP and RBCEndothelial
adhesion in
thrombosis
• Glucose metabolism plays a pivotal role in RBC functions:
RBCs rely solely on glycolysis to generate adenosine triphosphate (ATP)
pproximately 25% of glucose in RBCs is used to produce the RBC specific
metabolite 2,3-bisphosphoglycerate (2,3-BPG) for hemoglobin O2 affinity
modulation
RBCs depend on the oxidative branch of the pentose phosphate pathway (PPP) to
generate NADPH
• The metabolism of glucose in the RBC is entirely anaerobic
• actate is the end-product of anaerobic glycolysis
GUIDE QUESTION 4
Pyruvate Kinase Definciency
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Pathogenesis of Pyruvate Kinase Deficiency
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Signs & Symptoms of PKD
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Question 5
A. Glucose
Guide Question 6
ADP to ATP ratios would
be elevated above normal
Echinocytes
Acanthocytes
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Guide Question 7
Transfusion
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Types of Transfusions
Intrauterine
transfusion
Phototherapy/
Exchange
transfusion
SImple blood
transfusion
Sporadic blood
transfusion
Splenectomy
Iron Chelation Therapy
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Question 8
Warburg Effect
FUNCTION OF WARBURG EFFECT BENEFITTING CANCER CELLS
Rapid ATP Synthesis
BIosynthesis
Tumor Microenvironment
Cell Signalling
End of
Presentation
Thank you!