Molybdenum deficiency (Q39945): Difference between revisions
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O molibdênio funciona como cofator para um número limitado de enzimas em humanos: sulfito oxidase, xantina oxidase e aldeído oxidase. Foi descrito um defeito metabólico grave e raro que causa deficiência do cofator de molibdênio e impede que essas enzimas sejam sintetizadas. Poucos bebês com esses defeitos sobrevivem aos primeiros dias de vida e os que sobrevivem apresentam graves anormalidades neurológicas. Embora a deficiência de molibdênio relacionada a uma deficiência alimentar seja extremamente rara em humanos, ela foi descrita na nutrição parenteral total (NPT) de longo prazo como secundária à administração de sulfito. Os sintomas incluem: taquicardia, dor de cabeça, cegueira noturna, irritabilidade e coma. As alterações bioquímicas podem consistir em elevadas concentrações plasmáticas de metionina , baixa concentração sérica de ácido úrico, altos níveis de tiossulfato urinário e baixos níveis urinários de ácido úrico e sulfato. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/316007944 / rank | |||||||||||||||
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CID11:5B5K.A | |||||||||||||||
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dki-india-5B5K.A | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: E61.5 / rank | |||||||||||||||
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Latest revision as of 05:33, 13 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | 5B5K.A |
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| English | Molybdenum deficiency |
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. |
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CID11:5B5K.A
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dki-india-5B5K.A
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Concluído
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13 August 2026
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