| HYPOTONIA-CYSTINURIA SYNDROME | |
| CYSTINURIA WITH MITOCHONDRIAL DISEASE | |
|
606407
OMIM = Online Mendelian Inheritance of Men | |
|
238523 | |
| Prolyl endopeptidase-like | |
| 3.4.21.26 | |
very rare autosomal recessive | |
| Laboratory findings | Arginine inc (urine) Cystine inc (urine) L-Lactic acid normal/inc (serum) L-Lysine inc (urine) Ornithine inc (urine) |
| Symptoms | developmental delay dysmorphism failure to thrive feeding difficulties, poor feeding fetal akinesia/hypokinesia sequence hyperphagia hypoglycemia hypotonia muscle weakness onset, childhood onset, infancy onset, neonatal psychomotor retardation ptosis (drooping eyelid) seizures urolithiasis, nephrolithiasis, kidney stones |