Table 1.
General Clinical Description of Purine and Pyrimidine Disorders in Which PRPP Is Involved as Substrate and AHCY Deficiency
| Clinical Symptom | PRS-I Superactivity | Arts Syndrome | CMTX5 | DFN2 | HGPRT Deficiency | APRT Deficiency | UMPS Deficiency | AHCY Deficiency |
|---|---|---|---|---|---|---|---|---|
| Neurological | ||||||||
| Mental retardation | ± | + | − | − | ± | − | − | + |
| Ataxia | ± | + | + | − | − | − | − | − |
| Hypotonia | ± | + | + | − | ± | − | − | + |
| Delayed motor development | ± | + | − | − | + | − | − | + |
| Areflexia | ± | + | − | − | − | − | − | − |
| Loss of deep tendon reflexes | − | + | + | − | − | − | − | + |
| Hearing impairment | ± | + | + | + | − | − | − | − |
| Optic atrophy | − | + | + | − | − | − | − | − |
| Uric acid overproduction | ||||||||
| Gout | + | − | − | − | + | − | − | − |
| Kidney stones | + | − | − | − | ± | +∗ | − | − |
| Renal failure | + | − | − | − | − | +∗ | − | − |
| Hematopoietic | ||||||||
| Recurrent infections | − | + | − | − | − | − | + | − |
| Anemia | − | − | − | − | ± | − | + | − |
| Other | ||||||||
| Short stature | − | − | − | − | ± | − | − | − |
| Self injury | − | − | − | − | ± | − | − | − |
| Early death | − | + | − | − | ± | − | ± | − |
∗
The urolithiasis and renal failure in APRT deficiency are not caused by increased uric acid production but by accumulation of 2,8 dihydroxy-adenine.