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Dr. Mel - Biochemistry > First Aid > Flashcards

First Aid Flashcards

1
Q

Elevated orotic acid in blood and urine in 2 diseases + difference

A 
Orotic aciduria (with megaloblastic anemia)
Ornithine transcarbamylase deficiency (no meg anemia)
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2
Q

Systemic primary carnitine deficiency

A

Weakness
Hypotonia
Hypoketotic hypoglycemia

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3
Q

Medium-chain acyl-CoA dehydrogenase deficiency

A

Accumulation of 8-10C fatty acyl carnitines in blood
Hypoketotic hypoglycemia

Vomiting, lethargy, seizures, coma, liver dysfunction

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4
Q

Vitamin A used as a treatment in 4 conditions

A

Topical retinol: wrinkles and acne
Oral isotretinoin: severe cystic acne
All-trans retinoic acid: AML subtype M3
For measles

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5
Q

2 steps before Isotretinoin prescription

A

Negative pregnancy test
2 forms of contraception
(Teratogenic)

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6
Q

3 enzymes require Biotin cofactor

A

Acetyl-CoA carboxylase
Pyruvate carboxylase
Propionyl-CoA carboxylase

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7
Q

3 enzymes require Thiamine cofactor

A

Transketolase
Pyruvate dehydrogenase
Alpha-ketoglutarate dehydrogenase

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8
Q

Triad of Wernicke-Korsakoff syndrome

A

Confusion
Ophthalmoplegia
Ataxia

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9
Q

2 symptoms of Dry and 2 others of Wet beriberi

A

Dry: polyneuritis, symmetrical muscle wasting

Wet: high-output cardiac failure (dilated CM), edema

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10
Q

Function of Vit B2 + 2 symptoms when deficiency

A

Component of flavins (FAD, FMN), cofactors in redox reactions

Cheilosis
Corneal vascularization

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11
Q

Function + indication of Vit B3 + 3 symptoms of excess

A

Constituent of NAD+ and NADP+

Lowers VLDL + raises HDL

Facial flushing (avoid by aspirin) + hyperglycemia + hyperuricemia

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12
Q

4 causes of Pellagra

A

Vitamin B3 deficiency
Hartnup disease
Malignant carcinoid syndrome
Isoniazid

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13
Q

2 presentations of Vit B3 deficiency

A

Glossitis

If severe, Pellagra (Diarrhea, Dementia/hallucinations, Dermatitis C3-C4/hyperpigmentation)

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14
Q

Function of Vit B5 + 4 symptoms of deficiency

A

Component of CoA and fatty acid synthase

Dermatitis
Enteritis
Alopecia
Adrenal insufficiency

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15
Q

4 symptoms of Vit B6 deficiency

A

Convulsions
Hyperirritability
Peripheral neuropathy
Sideroblastic anemia

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16
Q

Function of Vitamin B7 (biotin) + causes of deficiency

A

Cofactor for Pyruvate carboxylase, Acetyl-CoA carboxylase, Propionyl-CoA carboxylase

By antibiotic use or excessive ingestion of raw egg whites

17
Q

Function + source of Vitamin B9 (folate)

A

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

18
Q

Causes +signs of Vitamin B9 deficiency

A 
In alcoholism + pregnancy
By drugs (phenytoin, sulfonamides, methotrexate, trimethoprim)

Macrocytic megaloblastic anemia
Hypersegmented polymorphonuclear cells
Glossitis
No neuro signs

19
Q

DNA damage

A

UV (non-ionizing) radiation: thymidine dimerization
Ionizing radiation: ds fractures, O2 free radicals
Alkylating (physical+chemical) agents: DNA cross-linking

20
Q

Adenosine deaminase (ADA) deficiency

A

Toxicity in lymphocytes

Autosomal recessive SCID

21
Q

Topoisomerase inhibitors (drugs)

A

Fluoroquinolones: proK topoiso II + topoiso IV

Etoposide/teniposide: euK topoiso II

22
Q

RNA polymerase inhibitors

A

Alpha-amanitin: RNA polym II
Rifampin: RNA polym in proK
Actinomycin D: RNA polym in proK + euK

23
Q

Diseases of collagen

A

I: osteogenesis imperfecta type I (def)
III: vascular type of Ehlers-Danlos sd (def)
IV: Alport sd (def), Goodpasture sd (autoAb)

24
Q

ATP production

A

Aerobic: glucose metab: 32 ATP via malate-aspartate shuttle (heart+liver); 30 ATP via glycerol-3-phosphate shuttle (muscle)

Anaerobic: glycolysis: 2 ATP/glucose

25
Q

Universal electron acceptors

A 
Nicotinamides (NAD+, NADP+): NAD+ for catabolic, NADPH for anabolic
Flavin nucleotides (FAD+)
26
Q

4 uses of NADPH

A

Anabolic processes
Respiratory burst
CYP450 system
Glutathione reductase

27
Q

Hexokinase vs glucokinase

A

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

28
Q

5 ttt for hyperammonemia

A 
Limit protein in diet
Lactulose
Rifaximin
Benzoate, phenylacetate, phenylbutyrate
Arginine

Dr. Mel - Biochemistry (2 decks)

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