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| multiple carboxylase deficiency ： ウィキペディア英語版 |
multiple carboxylase deficiency
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.
The deficiency can be in biotinidase or holocarboxylase synthetase.〔(【引用サイトリンク】title=Multiple Carboxylase Deficiency )〕
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.
==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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