Congenital expression of prolidase defect in prolidase deficiency.
Newborn blood from three siblings with prolidase deficiency contained no detectable prolidase activity. Umbilical cord blood contained no prolidase activity in one sibling and only 6.8% of control activity in another sibling. In prolidase deficiency the enzyme defect is expressed at birth, well before the appearance of skin ulcers, and is demonstrable in filter paper specimens of blood obtained for routine screening.
D002675:Child, Preschool; D004150:Dipeptidases / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D005260:Female; D005312:Fetal Blood / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male
D004150:Dipeptidases; C022454:prolyl dipeptidase; C022449:proline dipeptidase