First Aid Flashcards
Elevated orotic acid in blood and urine in 2 diseases + difference
Orotic aciduria (with megaloblastic anemia) Ornithine transcarbamylase deficiency (no meg anemia)
Systemic primary carnitine deficiency
Weakness
Hypotonia
Hypoketotic hypoglycemia
Medium-chain acyl-CoA dehydrogenase deficiency
Accumulation of 8-10C fatty acyl carnitines in blood
Hypoketotic hypoglycemia
Vomiting, lethargy, seizures, coma, liver dysfunction
Vitamin A used as a treatment in 4 conditions
Topical retinol: wrinkles and acne
Oral isotretinoin: severe cystic acne
All-trans retinoic acid: AML subtype M3
For measles
2 steps before Isotretinoin prescription
Negative pregnancy test
2 forms of contraception
(Teratogenic)
3 enzymes require Biotin cofactor
Acetyl-CoA carboxylase
Pyruvate carboxylase
Propionyl-CoA carboxylase
3 enzymes require Thiamine cofactor
Transketolase
Pyruvate dehydrogenase
Alpha-ketoglutarate dehydrogenase
Triad of Wernicke-Korsakoff syndrome
Confusion
Ophthalmoplegia
Ataxia
2 symptoms of Dry and 2 others of Wet beriberi
Dry: polyneuritis, symmetrical muscle wasting
Wet: high-output cardiac failure (dilated CM), edema
Function of Vit B2 + 2 symptoms when deficiency
Component of flavins (FAD, FMN), cofactors in redox reactions
Cheilosis
Corneal vascularization
Function + indication of Vit B3 + 3 symptoms of excess
Constituent of NAD+ and NADP+
Lowers VLDL + raises HDL
Facial flushing (avoid by aspirin) + hyperglycemia + hyperuricemia
4 causes of Pellagra
Vitamin B3 deficiency
Hartnup disease
Malignant carcinoid syndrome
Isoniazid
2 presentations of Vit B3 deficiency
Glossitis
If severe, Pellagra (Diarrhea, Dementia/hallucinations, Dermatitis C3-C4/hyperpigmentation)
Function of Vit B5 + 4 symptoms of deficiency
Component of CoA and fatty acid synthase
Dermatitis
Enteritis
Alopecia
Adrenal insufficiency
4 symptoms of Vit B6 deficiency
Convulsions
Hyperirritability
Peripheral neuropathy
Sideroblastic anemia
Function of Vitamin B7 (biotin) + causes of deficiency
Cofactor for Pyruvate carboxylase, Acetyl-CoA carboxylase, Propionyl-CoA carboxylase
By antibiotic use or excessive ingestion of raw egg whites
Function + source of Vitamin B9 (folate)
Converted to THF (coenzyme for 1-carbon transfer/methylation)
Synthesis of nitrogenous bases in DNA/RNA
Small reserve pool in liver
From leafy geen vegetables
Causes +signs of Vitamin B9 deficiency
In alcoholism + pregnancy By drugs (phenytoin, sulfonamides, methotrexate, trimethoprim)
Macrocytic megaloblastic anemia
Hypersegmented polymorphonuclear cells
Glossitis
No neuro signs
DNA damage
UV (non-ionizing) radiation: thymidine dimerization
Ionizing radiation: ds fractures, O2 free radicals
Alkylating (physical+chemical) agents: DNA cross-linking
Adenosine deaminase (ADA) deficiency
Toxicity in lymphocytes
Autosomal recessive SCID
Topoisomerase inhibitors (drugs)
Fluoroquinolones: proK topoiso II + topoiso IV
Etoposide/teniposide: euK topoiso II
RNA polymerase inhibitors
Alpha-amanitin: RNA polym II
Rifampin: RNA polym in proK
Actinomycin D: RNA polym in proK + euK
Diseases of collagen
I: osteogenesis imperfecta type I (def)
III: vascular type of Ehlers-Danlos sd (def)
IV: Alport sd (def), Goodpasture sd (autoAb)
ATP production
Aerobic: glucose metab: 32 ATP via malate-aspartate shuttle (heart+liver); 30 ATP via glycerol-3-phosphate shuttle (muscle)
Anaerobic: glycolysis: 2 ATP/glucose
Universal electron acceptors
Nicotinamides (NAD+, NADP+): NAD+ for catabolic, NADPH for anabolic Flavin nucleotides (FAD+)
4 uses of NADPH
Anabolic processes
Respiratory burst
CYP450 system
Glutathione reductase
Hexokinase vs glucokinase
Hexokinase: most tissues, not liver, not beta C; high affinity; low capacity; not induced by insulin
Glucokinase: liver, beta C; low affinity; high capacity; induced by insulin
5 ttt for hyperammonemia
Limit protein in diet Lactulose Rifaximin Benzoate, phenylacetate, phenylbutyrate Arginine
