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无症状的小儿S-adenosylhomocysteine酶缺乏症的表现

Patrícia Lipari Pinto1, Marjorie Dixon2, Sniya Sudhakar3

  • 1Hereditary Metabolic Disease Reference Center, Metabolic Unit, Pediatric Department Santa Maria's Hospital-Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon Lisbon Portugal.

JIMD reports
|November 8, 2024
PubMed
概括

作为一种代谢障碍的S-adenosylhomocysteine酸酶缺乏症,在儿童中可能呈现轻度. 饮食中氨酸的限制可能会逆转神经症状,这表明早期干预的可能性.

关键词:
一个AHCY基因基因.这是一种S-adenosylhomocysteine.在S-adenosylhomocysteine水解酶缺乏症中.在S-adenosylmethionine中使用.肝细胞癌是肝细胞癌.超高氨酸血症 (hypermethioninemia) 是一种

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