Table 1 Biochemical, genetic and medical information of 18 patients (naive and under L-dopa/carbidopa treatment) (patients 1–18).
From: Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
Patients | Date of birth (age at analyses time) | Disease (#OMIM) Gene Mutations | aMT6s µmol/mol creatinine (ref. values) | % aMT6s reduction | CSF 5HIAA nmol/L (reduction, %) | Treatment | Dose (units) | Duration |
|---|---|---|---|---|---|---|---|---|
1 | 1960 (56 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 4.1(6.3–37.9) | −34.9 | NP | L-dopa/carbidopa | 300 mg/d | 15y |
2 | 1963 (53 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 8.4(6.3–37.9) | No reduction | NP | L-dopa/carbidopa | 400 mg/d | 5y |
3 | 1966 (50 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 18.2(6.3–37.9) | No reduction | NP | L-dopa/carbidopa | 375 mg/d | 25y |
4 | 1996 (20 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 12.7(6.3–37.9) | No reduction | NP | L-dopa/carbidopa | 75 mg/d | 15y |
5 | 2002 (14 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 19.8(11.9–66.2) | No reduction | 236 (no reduction) At 1 y of age (diagnose time) | L-dopa/carbidopa | 130 mg/d | 12y |
6 | 1992 (24 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 38(6.3–37.9) | No reduction | NP | No. Naive patient | ||
7 | 1998 (18 years) | dGTPCH (#233910)GCH1c.235_240delCTGAGC (p.L79_S80del) | 21.2(6.3–37.9) | No reduction | NP | L-dopa/carbidopa | 62.5 mg/d | 10 y |
Trihexypenidyl | 6 mg/d | 6y | ||||||
8 | 1963 (52 years) | dGTPCH (#233910)GCH1c.235_240delCTGAGC (p.L79_S80del) | 6.5(6.3–37.9) | No reduction | NP | No. Naive patient | ||
9 | 2006 (10 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 13.4(11.9–66.2) | No reduction | NP | No. Naive patient | ||
10 | 1974 (42 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 12.1(6.3–37.9) | No reduction | NP | L-dopa/carbidopa | 200 mg/d | 7 y |
11 | 1950 (66 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 18.1(6.3–37.9) | No reduction | NP | L-dopa/carbidopa | NA | NA |
12 | 1971 (45 years) | dGTPCH (#233910)GCH1c.68C>T (p.P23L) | 19.8(6.3–37.9) | No reduction | NP | No. Naive patient | ||
13 | 1967 (49 years) | dGTPCH (#233910)GCH1c.265C>T (p.Q89X) | 1.9(6.3–37.9) | −69.8 | NP | No. Naive patient | ||
14 | 2006 (10 years) | rGTPCH (#128230)GCH1c.68C>T/c.265C>T(p.P23L/p.Q89X) | 34.2(11.9–66.2) | No reduction | NP | L-dopa/carbidopa | 120 mg/d | 4y |
15 | 1997 (19 years) | SR (#612716)SPRc.304G>T/c.448A>G(p.G102C/p.R150G) | 2.5(6.3–37.9) | –60.3 | 25 (−60.3) At 11 y of age (diagnose time) | L-dopa/carbidopa | 180 mg/d | 8 y |
16 | 1992 (24 years) | SR (#612716)SPRc.304G>T/c.448A>G(p.G102C/p.R150G) | 4.8(6.3–37.9) | −23.8 | NP | L-dopa/carbidopa | 300 mg/d | 7 y |
17 | 1990 (26 years) | SR (#612716)SPRc.304G>T/c.448A>G(p.G102C/p.R150G) | 0.8(6.3–37.9) | −87.3 | NP | No. Naive patient | ||
18* | 2014 (1 years) | AADC (#608643)DDCc.1041+1G>C/c.323G>A(IVS11 ds G-C +1 /p.S108N) | 1.1(19.4–79.1) | −94.3 | 1 (−99.4) At 1 y of age (diagnose time) | No. Naive patient |
