Table 1.
Pathologies associated with defects in purine synthesis enzymes highly conserved between yeast and humans.
| Pathology | Enzymatic Defect | Gene Name (Location) | Phenotype MIM Number | Inheritance | Locus MIM Number | Reference |
|---|---|---|---|---|---|---|
| ADSL deficiency | Loss of function |
ADSL (22q13.1) |
103050 | Autosomal recessive | 608222 | [24] |
| AICA-Ribosiduria | Loss of function |
ATIC (2q35) |
608688 | Autosomal recessive | 601731 | [25] |
| Retinitis pigmentosa 10 | Loss of function |
IMPDH1 (7q32.1) |
180105 | Autosomal dominant | [26] | |
| Leber Congenital Amaurosis 11 | Loss of function |
IMPDH1 (7q32.1) |
613837 | ? | 146690 | [27] |
| PNP deficiency |
PNP (14q11.2) |
613179 | Autosomal recessive | 164050 | [28] | |
| Arts syndrome | Loss of function |
PRPS1 (Xq22.3) |
311835 | X-linked recessive |
311850 | [29] |
| Charcot-Marie-Tooth disease, X-linked recessive, 5 | Loss of function |
PRPS1 (Xq22.3) |
311070 | X-linked recessive |
311850 | [30] |
| Deafness, X-linked 1 | Loss of function |
PRPS1 (Xq22.3) |
304500 | X-linked | 311850 | [31] |
| Hyperuricemia, PRPS-related | Gain of function |
PRPS1 (Xq22.3) |
300661 | X-linked recessive |
311850 | [32] |