Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis.
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.
Mandel
H
H
Department of Pediatrics, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel. h_mandel@rambam.health.gov.il
Abeling
N
N
Gutman
A
A
Berant
M
M
Scholten
E G
EG
Sheiman
C
C
Luder
A
A
van Gennip
A H
AH
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D000596:Amino Acids / Q000097:blood; D000649:Amniocentesis; D018912:Arabs / Q000235:genetics; D003241:Consanguinity; D004150:Dipeptidases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D007557:Israel; D007585:Jews / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology; D011379:Prognosis
D000596:Amino Acids; D004150:Dipeptidases; C022449:proline dipeptidase