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Glycogen phosphorylation
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Lysine hydroxylation
Nucleotide methylation
Pyruvate dehydrogenation
Redox reactions
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This malnourished patient who presents with bleeding gums, bruising, and perifollicular hemorrhages most likely has scurvy. This disease is caused by a deficiency of vitamin C, which is a co-factor for lysine hydroxylation. Vitamin C (also known as ascorbic acid) has a wide variety of physiologic functions. Most importantly, it is essential for collagen synthesis because it is required for proline and lysine hydroxylation reactions. It also functions as an antioxidant by regenerating vitamin E and decreasing oxidation of low-density lipoproteins (LDL). It improves intestinal absorption of iron by keeping it in the reduced ferrous (Fe2+) state. It is needed for the synthesis of norepinephrine as a necessary co-factor for dopamine β-hydroxylase. Finally, it protects against a broad variety of nitrosylation reactions. Vitamin C deficiency causes scurvy in malnourished patients, which presents with bleeding gums, bruising, and perifollicular hemorrhage. Golriz et al. conducted a review of scurvy in the modern era. They found that this disease occurs commonly in patients with iron overload, neurologic conditions, or a history of chemotherapy but was not detected in otherwise healthy children. Incorrect Answers: Answer 1: Glycogen phosphorylation requires pyridoxal phosphate as a co-factor. Pyridoxine deficiency would present with convulsions, hyper-irritability, peripheral neuropathy, sideroblastic anemias, cheilosis or stomatitis. Answer 3: Nucleotide methylation or 1-carbon transfer reactions require folate as a co-factor. Folate deficiency would present with a macrocytic and megaloblastic anemia. Answer 4: Pyruvate dehydrogenation and other dehydrogenase enzyme activities require thiamine as a co-factor. Thiamine deficiency would present with Wernicke (ataxia, confusion, nystagmus, and ophthalmoplegia) or Korsakoff (confabulation, psychosis, and mammillary body hemorrhage) syndromes. Answer 5: Redox reactions require niacin as a cofactor. Niacin deficiency would cause pellagra and present with the triad of diarrhea, dermatitis, and dementia. Bullet Summary: Scurvy is caused by a deficiency of vitamin C, which is used in proline and lysine hydroxylation reactions.
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