Poinsot J, Parent P, Alix D, Toudic L, Castel Y
J Genet Hum. 1986 Nov;34(5):431-7.
Prenatal diagnosis: The authors present a personal case of triose-phosphate-isomerase deficiency. Clinically the deficiency associates a constitutional non spherocytic anemia, paroxystic and precocius, and neuromuscular symptoms (axial hypotonia and limb palsies). A diaphragmatic paralysis may complicate the syndrome. Infections are frequent. Survival rarely goes beyond 5 years of age. Biochemical exams show the ubiquity of the deficiency. The physiopathology remains obscure. The TPI deficiency is heritable (autosomal recessive transmission). The gene has been mapped on the short arm of the chromosome 12. Prenatal diagnosis is possible.
作者介绍了一例磷酸丙糖异构酶缺乏症的个人病例。临床上，该缺乏症伴有先天性非球形细胞性贫血，呈发作性且较早出现，以及神经肌肉症状（轴性肌张力减退和肢体麻痹）。膈肌麻痹可能使该综合征复杂化。感染很常见。存活期很少超过5岁。生化检查显示该缺乏症普遍存在。其生理病理学仍不清楚。磷酸丙糖异构酶缺乏症是遗传性的（常染色体隐性遗传）。该基因已定位在12号染色体短臂上。产前诊断是可行的。
