ICD-11 code : 5B5K.A;
Preferred Label : Molybdenum deficiency;
ICD-11 definition : Molybdenum functions as a cofactor for a limited number of enzymes in humans: sulfite
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 sulfite. 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 sulfate levels.;
Origin ID : 316007944;
UMLS CUI : C0342928;
Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Molybdenum functions as a cofactor for a limited number of enzymes in humans: sulfite
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 sulfite. 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 sulfate levels.
