Kaur M, Das G P, Verma I C
Department of Paediatrics, All India Institute of Medical Sciences, New Delhi.
J Inherit Metab Dis. 1994;17(2):230-3. doi: 10.1007/BF00711623.
We screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin-layer chromatography of urine/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic hyperglycinaemia. Ornithinaemia was detected in two cases (0.08%), and phenylketonuria and cystinuria in two cases each (0.08%). Generalized hyperaminoacidurias were found in 90 (3.52%) subjects. The frequency pattern of the various amino acid disorders in North India was found to be remarkably different from that observed in the West.
我们通过化学检测以及尿液/血浆的薄层色谱法，对2560例转诊病例进行了氨基酸代谢先天性疾病筛查。在62例（2.4%）病例中，确诊了11种遗传性孟德尔式氨基酸紊乱疾病。最常见的四种疾病是同型胱氨酸尿症、尿黑酸尿症、枫糖尿症和非酮症高甘氨酸血症。在两例病例（0.08%）中检测到鸟氨酸血症，苯丙酮尿症和胱氨酸尿症各有两例（0.08%）。在90名（3.52%）受试者中发现了全身性高氨基酸尿症。结果发现，印度北部各种氨基酸紊乱疾病的发生频率模式与西方观察到的情况显著不同。
