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

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

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acids / blood
  • Amniocentesis*
  • Arabs / genetics
  • Consanguinity
  • Dipeptidases / deficiency*
  • Dipeptidases / genetics
  • Dipeptidases / metabolism
  • Fatal Outcome
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / enzymology
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / enzymology
  • Humans
  • Infant, Newborn
  • Israel
  • Jews / genetics
  • Leukocytes / enzymology
  • Prognosis

Substances

  • Amino Acids
  • Dipeptidases
  • proline dipeptidase