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5B5K.A Molybdenum deficiency

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Molybdenum functions as a cofactor for a limited number of enzymes in humans: sulphite oxidase, xanthine oxidase and aldehyde oxidase. A rare severe metabolic defect causing molybdenum cofactor deficiency and preventing these enzymes from being synthesized has been described. Few infants with such defects survive the first days of life, and those who survive have severe neurological abnormalities. Although molybdenum deficiency related to a dietary deficiency is extremely rare in humans, it has been described in long-term total parenteral nutrition as being secondary to the administration of sulphite. Symptoms include: tachycardia, headache, night blindness, irritability and coma. Biochemical changes can consist of elevated plasma and methionine concentration, low serum uric acid concentration, high urinary thiosulfate and low urinary uric acid and sulphate levels.

synonyms

• Molybdenum deficiency

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