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  • Title: Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis.
    Author: Mandel H, Abeling N, Gutman A, Berant M, Scholten EG, Sheiman C, Luder A, van Gennip AH.
    Journal: Prenat Diagn; 2000 Nov; 20(11):927-9. PubMed ID: 11113899.
    Abstract:
    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.
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