| 同胞姊弟苯酮尿症 |
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| 引用本文： | 封桂馥,徐光铸. 同胞姊弟苯酮尿症[J]. 蚌埠医学院学报, 1987, 0(2) |
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| 作者姓名： | 封桂馥 徐光铸 |
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| 作者单位： | 蚌埠医学院附院儿科(封桂馥)，蚌埠医学院附院儿科(徐光铸) |
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| 摘 要： | 本文报导一家二例同胞姊弟患苯酮尿症。其父母非近亲结婚。两例患儿均有严重智力低下,皮肤白嫩,头发黄褐色。一例患儿有惊厥,尿有霉臭味,尿三氯化铁试验阳性,血丙氨酸测定(细菌抑制法)为16～18mg％。本病属常染色体隐性遗传,一家两例少见。文中对本病的病因、诊断和治疗加以讨论。
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| 关 键 词： | 苯酮尿症 苯丙氨酸 常染色体隐性遗传 |
TWO SIBLINGS WITH PHENYLKETONURIA |
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| Feng Guifu,Xu Guangzhu. TWO SIBLINGS WITH PHENYLKETONURIA[J]. Journal of Bengbu Medical College, 1987, 0(2) |
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| Authors: | Feng Guifu Xu Guangzhu |
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| Abstract: | TWO siblings in a family who developed phenylketonuria (PKU)arc reported. Their parents are not nearly related. Both of the Patients had severe mental underdevelopment. Their skin was white and delicate, and hair yellow-brown in colour. One of them had convulsions. Their Urine had a mildewy odour. Urine iron trichlorate test was positive. Blood phenyl acid estimation ( BjA ) was l6-l8mg%. PKU belongs to autosomol recessive inherited diseases. It is rare that two cases occur in one family. The etiology, diagnosis and treatment are discussed. |
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| Keywords: | phenylketonuria phenyl acid autosomal recessive inheritance. |
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