Table 1.
Concentrations (in µmol/L) and ratios of BCAA (with age-related reference values) measured in plasma, CSF and NBS dried blood cards of affected patients and their relatives. Plasma and CSF concentrations of patients are reported at time of diagnosis.
| Patients | Plasma BCAA | CSF BCAA | NBS BCAA | ||||||||||||||
| ID | Gender |
Leu * (74–203) |
Ile * (42–124) |
Val * (145–337) |
Leu/Phe * (1.2–3.0) |
Ile/Phe * (0.7–1.7) |
Val/Phe * (2.0–5.4) |
Leu * (7–44) |
Ile * (4–24) |
Val * (10–41) |
Leu/Phe * (0.9–2.2) |
Ile/Phe * (0.4–1.7) |
Val/Phe * (1.1–2.8) |
Xle * (<486) |
Val * (<269) |
Xle/Phe * (<6.0) |
Val/Phe * (<3.1) |
| Patient 1 | Female | 29 | 13 | 62 | 0.4 | 0.2 | 0.9 | 3.3 | 1.4 | 6.4 | 0.20 | 0.08 | 0.38 | 84 | 47 | 1.4 | 0.8 |
| Patient 2 | Female | 15 | 7 | 44 | 0.3 | 0.1 | 0.9 | 1.8 | 1.0 | 4.4 | 0.11 | 0.06 | 0.28 | 89 | 44 | 1.8 | 0.9 |
| Patient 3 | Male | 51 | 21 | 73 | 0.6 | 0.3 | 0.9 | 3.8 | 1.4 | 6 | 0.23 | 0.08 | 0.36 | 210 | 81 | 3.2 | 1.2 |
| Unaffected Siblings | Plasma BCAA | CSF BCAA | NBS BCAA | ||||||||||||||
| ID | Gender |
Leu * (74–203) |
Ile * (42–124) |
Val * (145–337) |
Leu/Phe * (1.2–3.0) |
Ile/Phe * (0.7–1.7) |
Val/Phe * (2.0–5.4) |
Leu * (7–44) |
Ile * (4–24) |
Val * (10–41) |
Leu/Phe * (0.9–2.2) |
Ile/Phe * (0.4–1.7) |
Val/Phe * (1.1–2.8) |
Xle * (<486) |
Val * (<269) |
Xle/Phe * (<6.0) |
Val/Phe * (<3.1) |
| Sister 1 | Female | 126 | 62 | 177 | 1.3 | 0.7 | 1.9 | / | / | / | / | / | / | 321 | 145 | 5.7 | 2.6 |
| Brother 1 | Male | 125 | 58 | 136 | 2.0 | 0.9 | 2.2 | / | / | / | / | / | / | 246 | 112 | 4.4 | 2.0 |
| Sister 2 | Female | 112 | 46 | 130 | 2.3 | 1.0 | 2.7 | / | / | / | / | / | / | 253 | 81 | 4.8 | 1.5 |
| Parents | Plasma BCAA | ||||||||||||||||
| ID | Gender |
Leu * (74–228) |
Ile * (37–132) |
Val * (105–352) |
Leu/Phe * (0.9–2.6) |
Ile/Phe * (0.7–1.5) |
Val/Phe * (1.7–4.8) |
||||||||||
| Father | Male | 156 | 66 | 222 | 2.4 | 1.0 | 3.4 | ||||||||||
| Mother | Female | 134 | 64 | 175 | 1.6 | 0.8 | 2.1 | ||||||||||
* Leu, Ile, Val and Xle stand for leucine, isoleucine, valine and leucine/isoleucine respectively. Leu/Phe, Ile/Phe and Val/Phe are the corresponding ratios calculated on respective phenylalanine concentrations.