甲基丙二酸血症精準檢測套組
甲基丙二酸血症（Methylmalonic Aciduria，俗稱MMA）是一種體染色體隱性遺傳的氨基酸代謝疾病，其缺陷是位於甲基丙二酸輔酶 A （CoA）轉化爲琥珀酰輔酶 A 的過程，這會造成身體無法正確處理某些蛋白質和脂質。
概述
- 甲基丙二酸血症（Methylmalonic Aciduria，俗稱MMA）是一種體染色體隱性遺傳的氨基酸代謝疾病，其缺陷是位於甲基丙二酸輔酶 A （CoA）轉化爲琥珀酰輔酶 A 的過程，這會造成身體無法正確處理某些蛋白質和脂質。導致甲基丙二酸在生物體中的累積，表現出神經系統方面的症狀，例如癲癇發作、腦病和中風。這是一種致命的、嚴重的異質性疾病，涉及甲基丙二酸和鈷胺素（Vitamin B12）代謝，造成不良的預後。此類疾病可以單獨出現，或與其他有機酸血症合併出現。
- Igenomix甲基丙二酸血症精準檢測套組可作為精準的診斷工具，以便對該疾病進行更好的管理並達成更好的預後。本檢測使用次世代定序（NGS）對此疾病的相關基因進行全面分析，以充分了解相關基因的受影響程度。
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