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- Q6934914 subject Q15127406.
- Q6934914 abstract "Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.The deficiency can be in biotinidase or holocarboxylase synthetase.These conditions respond to biotin.Forms include: Holocarboxylase synthetase deficiency - neonatal; Biotinidase deficiency - late onset;If left untreated, the symptoms can include feeding problems, hypotonia, generalised erythematous rash with skin exfoliation and alopecia, failure to thrive, seizure, coma, developmental delay, foul smelling urine, metabolic acidosis, ketosis and hyperammonemia.".
- Q6934914 meshId "D009100".
- Q6934914 wikiPageExternalLink mcd_prof.htm.
- Q6934914 wikiPageWikiLink Q1123139.
- Q6934914 wikiPageWikiLink Q1166142.
- Q6934914 wikiPageWikiLink Q1497481.
- Q6934914 wikiPageWikiLink Q15127406.
- Q6934914 wikiPageWikiLink Q159557.
- Q6934914 wikiPageWikiLink Q1598200.
- Q6934914 wikiPageWikiLink Q1640868.
- Q6934914 wikiPageWikiLink Q1753547.
- Q6934914 wikiPageWikiLink Q181354.
- Q6934914 wikiPageWikiLink Q2697787.
- Q6934914 wikiPageWikiLink Q5883885.
- Q6934914 wikiPageWikiLink Q6279182.
- Q6934914 wikiPageWikiLink Q7574983.
- Q6934914 wikiPageWikiLink Q776026.
- Q6934914 wikiPageWikiLink Q864850.
- Q6934914 wikiPageWikiLink Q9004493.
- Q6934914 wikiPageWikiLink Q901081.
- Q6934914 meshid "D009100".
- Q6934914 name "Multiple carboxylase deficiency".
- Q6934914 type Disease.
- Q6934914 type Thing.
- Q6934914 type Q12136.
- Q6934914 comment "Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.The deficiency can be in biotinidase or holocarboxylase synthetase.These conditions respond to biotin.Forms include: Holocarboxylase synthetase deficiency - neonatal; Biotinidase deficiency - late onset;If left untreated, the symptoms can include feeding problems, hypotonia, generalised erythematous rash with skin exfoliation and alopecia, failure to thrive, seizure, coma, developmental delay, foul smelling urine, metabolic acidosis, ketosis and hyperammonemia.".
- Q6934914 label "Multiple carboxylase deficiency".
- Q6934914 name "Multiple carboxylase deficiency".