HYDROXYPROLINEMIA .2. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF ENZYME HYDROXYPROLINE OXIDASE
HYDROXYPROLINEMIA .2. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF ENZYME HYDROXYPROLINE OXIDASE
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DOI：
10.1056/nejm196506242722501
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发表时间：
1965-01-01
影响因子：
158.5
通讯作者：
PRYLES, CV
中科院分区：
文献类型：
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作者：
EFRON, ML;BIXBY, EM;PRYLES, CV
大量游离（未结合）羟脯氨酸在13岁儿童的血液和尿液中积累。-智力迟钝的老女孩。尿羟脯氨酸被鉴定为l -4-羟脯氨酸，这种氨基酸构成了14%的胶原蛋白。患者无明显的胶原蛋白疾病，肽结合羟脯氨酸正常，反映胶原蛋白的转化。有证据表明，游离羟脯氨酸在患者体内的积累是羟脯氨酸氧化酶活性不足的结果，羟脯氨酸氧化酶通常催化羟脯氨酸降解的第一步。智力迟钝与羟脯氨酸浓度升高之间的关系尚未确定。这是唯一已知的患有这种疾病的病人，这种生化缺陷是在对一个智障人群的调查过程中发现的。无羟脯氨酸饮食不降低血羟脯氨酸浓度。目前尚无治疗这种疾病的方法。
Large amounts of free (unbound) hydroxyproline accumulated in the blood and urine of a 13-yr.-old mentally retarded girl. The urinary hydroxyproline was identified as L-4-hydroxyproline, the amino acid that constitutes 14% of collagen. The patient had no apparent collagen disease, and the peptide-bound hydroxyproline, which is known to reflect collagen turnover, was normal. Evidence that the accumulation of free hydroxyproline in the patient is the result of deficient activity of the enzyme hydroxyproline oxidase, which normally catalyzes the 1st step in hydroxyproline degradation, is presented. The relation between the mental retardation and the elevated hydroxyproline concentration is not established. This is the only known patient with the disorder, and the biochemical defect was discovered in the course of a survey of a retarded population. The blood hydroxyproline concentration was not lowered by a hydroxyproline-free diet. No therapy is at present available for this disorder.