Pathologies Flashcards
Sickle Cell Anemia
Glutamate (charged)→Valine (nonpolar) at pos. 6 in β2
Sickle cell shape in low O2 environments→vaso-occlusion (lower blood supply to organs), concentration in spleen, hemolysis at a faster rate
- Hb electrophoresis/ chromatography
- Blood smear and count
- DNA analysis
- prenatal testing No cure, just control pain/complications.
- Blood transfusions
- Hydroxyurea (make more fHb)
- Antibiotics -Onset=4 mo. after birth
- More common in African Americans
- Other variations of the gene→ β-thalassemia etc
Pellegra
Niacin deficiency
Dermatits, diarrhea, dementia -Niacin= precursor for NADH/NADPH
-Occurs in people who rely on corn diets
Riboflavin (B2) deficiency
- Cheilosis: dry corners of mouth
- Glossitis: bright, red smooth tongue
- Normochromic anemia: anemia, but normal size Erythrocyte Glutathion Reduction Assay Riboflavin= Precursor for FMN/FAD
Scurvy
Ascorbic Acid (Vitamin C) deficiency -Defects in connective tissue, specifically collagen hydroxylation/cross-linking (slow wound healing, irritability/apathy, anemia) -Radiologic findings (bone plates)
- Urinary clearance after oral vitamin C bolus -Vitamin C in citrus and veggies
- Vitamin C is heat labile
Thiamin deficiency
-Beriberi: malaise, neuropathy, heart failure
-Wernicke enceph: confusion, neuro issues
-Karsokoff psychosis: amnesia
-Wernicke enceph: confusion, neuro issues
-Karsokoff psychosis: amnesia
Thamine is a precursor to TTP
Thiamine responsive megaloblastic anemia
Mutation in SLC19A transporter (diet→ TTP) -Anemia
-Progressive deafness
Pryidoxyl Phosphate (PLP) Deficiency
- Infants: seizures, diarrhea, anemia, EEG abnormalities
- Adults: peripheral neuropathy -Erythrocyte transaminase assay
- PLP blood measurement
- Resolution of symptoms with pyridoxine/pyridox phosphate -PLP has many precursors (but just one may be blocked!)
Cobalamin (Vitamin B12) deficiency
Pernicious anemia (RBCs are BIG)
- Blood smear
- Methylmalonic acid in urine/blood
- Cobalamin conc. in serum
- Cobalamin found in animal-derived foods
Xeroderma Pigmentosum (XP)
Defect in genes that mediate NER, like exonucleases
DNA repair
sensitivity to UV radiation→ skin cancers (manifests as early as 1-2 yrs) Heterogeneous, autosomal recessive disease
Ataxia Telangiectasia (AT)
Defect in ATM ATM=important protein in DNA damage signaling (Esp. O2 inflicted DNA damage) -Neurodegeneration
-Susceptibility to cancer and ionizing radiation
-Genome instability
Hereditary disease
Medium Chain Acyl CoA Dehydrogenase (MCAD)
Acyl-CoA Dehydrogenase deficiency Fatty acid beta oxidation (1st oxidation step) -Inborn error (NW European ancestry)
-Possibly related to SIDS
