| 中文名稱 | 努比亞山羊的黏多醣症-IIID |
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| 英文名稱 | Caprine mucopolysaccharidosis-iiid in nubians |
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| 建立日期 | 2007/11/01 |
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| 更新日期 | 2007/11/01 |
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| 中文描述 | 黏多醣症是一種先天的溶小體儲存疾病，導致的原因是因為缺乏溶小體水解酶，此酶的作用為分解glycosaminoglycans (Jones et al.)。而黏多醣症-IIID已經在努比亞山羊中被診斷出，由交配似乎暗示著此疾病是遺傳性的正染色體退化所致。如何確診已經被Jones等人描述過。在出生時會有很嚴重的神經症狀，隨著倪零增長可能會好一些(Jones et al.)。 |
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| 英文描述 | Mucopolysaccharidoses are inherited lysosomal storage diseases caused by lysosomal hydrolase deficiencies that disrupt the catabolism of glycosaminoglycans (Jones et al.). Mucopolysaccharidois-IIID has been diagnosed in Nubian goats and matings suggest this is inherited as an autosomal recessive. Confirmation of the diagnosis was described by Jones et al. Signs can vary from severe neurologic disease at birth to signs that are less severe and develop later in life (Jones et al.). |
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