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MALIC ACID THERAPY FOR SUSPECTED FUMARASE DEFICIENCY

MALIC ACID THERAPY FOR SUSPECTED FUMARASE DEFICIENCY
苹果酸治疗疑似富马酸酶缺乏症
批准号:
2478603
负责人:
金额:
$2.21万
依托单位国家:
美国
项目类别:
财政年份:
--
资助国家:
美国
项目状态:
未结题
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英文摘要
Malic acid is widely distributed in nature comprising up to almost 1% by weight of the content of apples. In mammals it is formed in the penultimate reaction in the Krebs cycle and after conversion to oxaloacetate. Malic acid is absorbed by the gut and has specific plasma membrane transporters. This protocol investigates whether provision of malic acid to patients with defects in the Krebs cycle will lead to clinical improvement. One infant has been treated at this time.
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