Namba H, Narahara K, Tsuji K, Yokoyama Y, Murakami M, Matsubara T, Seino Y
Department of Pediatrics, Okayama University Medical School, Japan.
Acta Paediatr Jpn. 1994 Feb;36(1):16-9. doi: 10.1111/j.1442-200x.1994.tb03122.x.
The activity of porphobilinogen deaminase (PBGD), an enzyme whose partial deficiency is associated with acute intermittent porphyria (AIP), changes during development. Little is known about the postnatal change of PBGD activity and the prevalence of its electrophoretic variant in the Japanese population. The activity of PBGD was measured fluorometrically in 194 infants aged 0-12 months, while isoelectric focusing of PBGD was performed in 400 healthy Japanese adults aged 20-45 years and 30 children with various hematological disorders aged 1-15 years. The PBGD level was 1.9 times higher in the neonates than in the adults, decreased abruptly during the first month of life, and reached the adult level at the age of 9 months. None of the 400 healthy Japanese adults and the 30 children with hematological disorders showed any electrophoretic variant. These results suggest that there is no need to consider any polymorphism in the gene dose study of PBGD and that the biochemical screening of AIP is applicable to since the late infancy.
胆色素原脱氨酶（PBGD）部分缺乏与急性间歇性卟啉症（AIP）相关，该酶的活性在发育过程中会发生变化。关于PBGD活性的产后变化及其电泳变异体在日本人群中的患病率，人们了解甚少。对194名0至12个月大的婴儿进行了荧光法测定PBGD活性，同时对400名20至45岁的健康日本成年人以及30名1至15岁患有各种血液系统疾病的儿童进行了PBGD的等电聚焦分析。新生儿的PBGD水平比成年人高1.9倍，在出生后的第一个月内急剧下降，并在9个月大时达到成人水平。400名健康日本成年人和30名患有血液系统疾病的儿童均未显示出任何电泳变异体。这些结果表明，在PBGD的基因剂量研究中无需考虑任何多态性，并且AIP的生化筛查适用于婴儿晚期。
