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Case Reports
. 2000 Nov;20(11):927-9.
doi: 10.1002/1097-0223(200011)20:11<927::aid-pd943>3.0.co;2-h.

Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis

H Mandel  1 , N Abeling, A Gutman, M Berant, E G Scholten, C Sheiman, A Luder, A H van Gennip
Affiliations
Case Reports

Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis

H Mandel et al. Prenat Diagn. 2000 Nov.

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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