Table 1.
Genotype and biochemical phenotype in CGH1 mutated subjects enclosed in the study (see text for clinical details)
| ID | Genotype | Sex | Age (years) | CSF HVAa (r.v.)b | CSFa 5-HIAA (r.v.)b | CSF NEOa (r.v.)b | CSF BIOa (r.v.)b | Urine NEOa (r.v.)c | Urine BIOa (r.v.)c | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|
| 1a | c.631-632 del AT [p.M211fs] | F | 11 | 229 | 143 | 7.7 | 11.8 | 0.27 | 1.21 | Pedigree 1: proband |
| (148–434) | (68–115) | (9.1–20.1) | (10.1–29.9) | (0.30–1.84) | (0.53–2.05) | |||||
| 1b | c.631-632 del AT [p.M211fs] | M | 36 | 0.23 | 0.69 | Pedigree 1: father of 1a | ||||
| (0.19–0.91) | (0.28–0.86) | |||||||||
| 1c | c.671A>G [p.K224R] | M | 8 | 0.22 | 0.65 | Pedigree 1: brother of 1a | ||||
| (0.30–1.84) | (0.53–2.05) | |||||||||
| 1d | c.671A>G [p.K224R] | F | 34 | 0.41 | 0.36 | Pedigree 1: mother of 1a | ||||
| (0.19–0.91) | (0.28–0.86) | |||||||||
| 2a | Exon 1 deletion | F | 7 | 188 | 74 | 5.4 | 11.1 | 0.23 | 0.42 | Pedigree 2: proband |
| (137–582) | (68–220) | (9.1–20.1) | (10.1–29.9) | (0.30–1.84) | (0.53–2.05) | |||||
| 2b | Idem | F | 36 |
0.13 (0.19–0.91) |
0.16 (0.28–0.86) |
Pedigree 2: mother of 2a | ||||
| 2c | Idem | M | 5 | 0.25 | 0.60 | Pedigree 2: brother of 2a | ||||
| (0.30–1.84) | (0.53–2.05) | |||||||||
| 2d | Idem | F | 58 | 0.13 | 0.16 | Pedigree 2: maternal grandmother 2a | ||||
| (0.19–0.91) | (0.28–0.86) | |||||||||
| 3 | c.68 C>T [p.P23L] | M | 25 | 81 | 45 | 5.1 | 10.5 | 0.11 | 0.19 | Leuzzi, unpublished case |
| (98–450) | (45–135) | (9.1–20.1) | (10.1–29.9) | (0.19–0.91) | (0.28–0.86) | |||||
| 4 | c.671A>G [p.K224R] | M | 17 | 80 | 42 | 8.7 | 16.9 | 0.16 | 0.47 | Leuzzi et al. 2002 |
| (98–450) | (45–135) | (9.1–20.1) | (10.1–29.9) | (0.30–1.84) | (0.53–2.05) | |||||
| 5 | c.262 C>T [p.R88W] | F | 45 | 0.14 | 0.4 | Leuzzi, unpublished case | ||||
| (0.19–0.91) | (0.28–0.86) |
HVA homovanillic acid, 5-HIAA 5-hydroxyndoleacetic acid, NEO neopterin, BIO biopterin, BH4 tetrahydrobiopterin
a Pathological values are in bold
bAge-related reference values (r.v.) (nmol/l)
cAge-related reference values (r.v) (2.5–98 percentile of control values; mmol/mol creatinine)