Gahr M, Schröter W
Eur J Pediatr. 1981 Mar;136(1):63-5. doi: 10.1007/BF00441713.
Reduced phosphoglucomutase (PGM) activity (approximately 25% of normal) was found in erythrocytes from a healthy newborn infant. The PGM activity was also diminished (approximately 50% of normal) in the erythrocytes of the parents. No PGM1 isoenzymes were found in the erythrocytes of the propositus, as demonstrated by the starch gel electrophoresis. Both parents showed a normal distribution of the PGM1 isoenzymes. We propose a heterozygous state in the parents for a gene determining the activity of the PGM1 isoenzymes and that no activity of the PGM1 isoenzyme could be detected in erythrocytes of the propositus because of his homozygous state. In neonatal screening for galactosaemia red cell PGM deficiency gives false positive results, as does glucose-6-phosphate dehydrogenase deficiency.
在一名健康新生儿的红细胞中发现磷酸葡萄糖变位酶（PGM）活性降低（约为正常水平的25%）。其父母的红细胞中PGM活性也有所降低（约为正常水平的50%）。淀粉凝胶电泳显示，先证者的红细胞中未发现PGM1同工酶。父母双方的PGM1同工酶分布正常。我们推测父母为决定PGM1同工酶活性的基因的杂合状态，而先证者由于其纯合状态，红细胞中未检测到PGM同工酶的活性。在新生儿半乳糖血症筛查中，红细胞PGM缺乏会给出假阳性结果，葡萄糖-6-磷酸脱氢酶缺乏也是如此。
