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66          SECTION II    BIOCHEmISTRY  ``BIOCHEMISTRY—NUTRITION                                                                                                      BIOCHEmISTRY  ``BIOCHEMISTRY—NUTRITION





               Vitamin A             Includes retinal, retinol, retinoic acid.
                FUNCTION             Antioxidant; constituent of visual pigments   Retinol is vitamin A, so think retin-A (used
                                       (retinal); essential for normal differentiation   topically for wrinkles and Acne).
                                       of epithelial cells into specialized tissue   Found in liver and leafy vegetables.
                                       (pancreatic cells, mucus-secreting cells);   Supplementation in vitamin A-deficient measles
                                       prevents squamous metaplasia. Used to treat   patients may improve outcomes.
                                       measles and acute promyelocytic leukemia   Use oral isotretinoin to treat severe cystic acne.
                                       (APL).                                  Use all-trans retinoic acid to treat acute
                                                                                promyelocytic leukemia.


                DEFICIENCY           Night blindness (nyctalopia); dry, scaly skin
                                       (xerosis cutis); corneal squamous metaplasia Ž
                A
                                       Bitot spots (keratin debris; foamy appearance
                                       on conjunctiva  A ); corneal degeneration
                                       (keratomalacia); immunosuppression.




                EXCESS               Acute toxicity—nausea, vomiting, vertigo, and   Isotretinoin is teratogenic.
                                       blurred vision.
                                     Chronic toxicity—alopecia, dry skin (eg,
                                       scaliness), hepatic toxicity and enlargement,
                                       arthralgias, and idiopathic intracranial
                                       hypertension.
                                     Teratogenic (cleft palate, cardiac abnormalities),
                                       therefore a ⊝ pregnancy test and two forms of
                                       contraception are required before isotretinoin
                                       (vitamin A derivative) is prescribed.




               Vitamin B 1           Also called thiamine.
                FUNCTION             In thiamine pyrophosphate (TPP), a cofactor for  Be APT.
                                       several dehydrogenase enzyme reactions:   Spell beriberi as Ber1Ber1 to remember
                                         ƒ Branched-chain ketoacid dehydrogenase  vitamin B 1 .
                                         ƒ α-ketoglutarate dehydrogenase (TCA cycle)  Wernicke encephalopathy—acute, life-
                                         ƒ Pyruvate dehydrogenase (links glycolysis to   threatening, neurologic condition; classic triad
                                        TCA cycle)                              of confusion, ophthalmoplegia, ataxia.
                                         ƒ Transketolase (HMP shunt)           Korsakoff syndrome—amnestic disorder due to
                DEFICIENCY           Impaired glucose breakdown Ž ATP depletion   chronic alcohol consumption; presents with
                                       worsened by glucose infusion; highly aerobic   confabulation, personality changes, memory
                                       tissues (eg, brain, heart) are affected first.   loss (permanent).
                                       In alcoholic or malnourished patients,   Wernicke-Korsakoff syndrome—damage
                                       give thiamine before dextrose to  risk of   to medial dorsal nucleus of thalamus,
                                       precipitating Wernicke encephalopathy.   mammillary bodies. Presentation is
                                     Diagnosis made by  in RBC transketolase   combination of Wernicke encephalopathy and
                                       activity following vitamin B 1  administration.  Korsakoff syndrome.
                                                                               Dry beriberi—polyneuropathy, symmetric
                                                                                muscle wasting.
                                                                               Wet beriberi—high-output cardiac failure
                                                                                (dilated cardiomyopathy), edema.











          FAS1_2019_01-Biochem.indd   66                                                                                11/7/19   3:16 PM
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