CLINICAL, BIOCHEMICAL AND ENZYMATIC STUDIES IN TYPE-I HYPERPROLINEMIA ASSOCIATED WITH CHROMOSOMAL ABNORMALITY
CLINICAL, BIOCHEMICAL AND ENZYMATIC STUDIES IN TYPE-I HYPERPROLINEMIA ASSOCIATED WITH CHROMOSOMAL ABNORMALITY
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DOI：
10.1620/tjem.151.465
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发表时间：
1987-04-01
影响因子：
2.2
通讯作者：
SHIONO, H
中科院分区：
文献类型：
--
作者：
OYANAGI, K;TSUCHIYAMA, A;SHIONO, H
报告1例伴发染色体异常的Ⅰ型高脯氨酸血症的重度弱智儿。患者有特征性的高脯氨酸血症的面部外观，并在10个月大后发生惊厥。这个孩子出现了严重的智力和运动发育迟缓。G显带核型显示10号染色体短臂部分重复。患者和她的母亲表现出空腹高脯氨酸血症和血清中脯氨酸负荷后的异常清除曲线。肝组织脯氨酸氧化酶活性约为对照组的9%。酶动力学研究和混合实验均在正常范围内。限制饲料脯氨酸的正常范围内，低脯氨酸饮食一直持续到现在。在饮食治疗期间，生长令人满意，但她的智力发育没有改善。根据脯氨酸氧化酶活性的发育规律，我们推测，随着年龄的增长，对脯氨酸摄入量的限制应逐渐解除。
A severe mentally retarded infant with type I hyperprolinemia associated with chromosomal abnormality is reported. The patient had a characteristic facial appearance of hyperprolinemia and suffered from convulsions after the age of 10 months. The child developed severe mental and motor retardation. The karyotype of the patient revealed partial duplication of the short arm in chromosome 10 using G banding techiques. The patient and her mother showed a fasting hyperprolinemia and an abnormal clearance curve after the proline load in the serum. The proline oxidase activities of the liver tissues obtained by biopsy in the patient was about 9% of those of controls. Kinetic studies and mixed experiments of the enzyme were with normal limits. Restriction of dietary proline to the normal range, and a low proline diet was continued until the present time. During the period of dietary treatment, growth was satisfactory, but her mental development did not improve. From the developmental patterns of proline oxidase activities postnatally, we spectulated that restriction of dietary proline intake should be relieved with age.