| PROLIDASE DEFICIENCY | |
|
170100
OMIM = Online Mendelian Inheritance of Men | |
|
742 | |
| Xaa-Pro dipeptidase (Peptidase D) | |
| 3.4.13.9 | |
| rare (~50 cases) auosomal recessive mutation in the PEPD gene | |
| Laboratory findings | Imidodipeptides inc (urine) Alanylproline inc (urine) Glycylproline inc (urine) Immunglobulin IgA inc (plasma) Immunglobulin IgG inc (plasma) Immunreactive trypsinogen [+] inc (plasma) Prolidase dec (fibroblasts) Prolidase dec (leucocytes) Prolidase dec (erythrocytes) |
| Symptoms | anemia developmental delay dysmorphism hepatomegaly (large liver) infections (respiratory tract/system) malar flush otitis media, recurrent psychomotor retardation recurrent or intermittent skin defect skin rash, eczematous or seborrhoic splenomegaly (large spleen) teleangiectasia thrombopenia, thrombocytopenia ulcerations dermatitis hypertelorism infections (severe or recurrent) jaundice mental retardation onset, adolescent onset, childhood onset, infancy petechiae ptosis (drooping eyelid) short stature skin defects |