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560D CLINICAL BIOCHEMISTRY – COMP REVIEW EXAM
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560D CLINICAL BIOCHEMISTRY – COMPREVIEW EXAM
G6PD deficiency
- Most common enzyme deficiency known to cause hemolysis
- it reduces NADP to NADPH
G6PD Deficiency leads to increased oxidant stress and RBC lysis leading to
______
acute hemolytic anemia
Sideroblastic anemia
X-linked mutation of ALA synthase which also contains an iron response
element (IRE)
IRE blocks translation of ALA synthase
Mutation on ALA synthase causes excess iron in mitochondria
Heme synthesis is impaired because need ALA synthase to start the pathway of
heme production
Fe deficiency
Dietary deficiency, poor absorption, blood loss
Microcytic RBCs
- Absorption via Divalent Metal transporter
competition with Zn, Mn, Cu
- requires Vit. C and Cu for absorption
Importance of delta-aminolevulinic acid
- Rate limiting step of porphyrin biosynthesis and heme biosynthesis
- Requires pyridoxine
, Which of the following factors can increase likelihood of getting iron deficiency
anemia?
- Heavy menstruation
- Celiac disease
- Deficiency of copper
Anemia of chronic disease can be caused from prolonged inflammation (IL-6,
cytokines, infection), which increases level of __________________ to
sequester iron in tissues so germs can't use the iron to reproduce.
Hepcidin
What are the four conditionally essential amino acids?
Arg, Gln, Gly, Tau
Mutations in the SN1-SN2 transporter can lead to elevations in what 3 AA?
Gln, Asn, His
The central energy pathways begin with digestion and assimilation of fats,
carbohydrates, and proteins. Long chain FA require the use of the
_________________ shuttle to help them enter the mitochondrial for beta-
oxidation.
Carnitine
Inhibition of CoQ10 synthesis from statin drugs, will typically reveal elevations
in urinary_____________________
Hydroxymethylglutarate
When considering toxic exposures, through what barriers and routes of entry
can lipophilic (fat loving) toxins be absorbed?
Through the GI tract
Through the skin
Through the lymphatics
in utero
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