Mandel H, Abeling N, Gutman A, Berant M, Scholten E G, Sheiman C, Luder A, van Gennip A H
Department of Pediatrics, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel.
Prenat Diagn. 2000 Nov;20(11):927-9. doi: 10.1002/1097-0223(200011)20:11<927::aid-pd943>3.0.co;2-h.
Prolidase deficiency is an autosomal recessive disorder that is characterized by considerable inter- and intrafamilial variability in its clinical presentation, ranging from asymptomatic to severe and fatal illness. We report here, for the first time, prenatal diagnosis of prolidase deficiency in a family whose first child was severely affected since birth and died at an early age. However, unexpectedly, the parents decided to continue the second pregnancy, which produced a full-term, healthy-appearing baby. The diagnosis of severe prolidase deficiency was confirmed in the baby's leukocytes. At age 4 months the baby is asymptomatic. Since the clinical severity of the disorder cannot be predicted, genetic counselling remains problematic despite the feasibility of prenatal diagnosis.
