Table 1.
Demographic, clinical and biochemical features of Egyptian maple syrup urine disease (MSUD) patients (n = 10).
| Family/Patient code | Gender | Current age | Age at diagnosis | Consanguinity | Family history | Clinical neurometabolic manifestations | Relevant investigations at diagnosis | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Poor suckling & Vomiting | Lethargy/irritability | Maple syrup odor | Seizures | Coma | phenotype | Leucine/ isoleucine (µmol/l) | Valine(µmol/l) | Leucine/Phenylalanine | Urine organic acids | Ammonia (µmol/l) | Lactate (mg/dl) | ||||||
| I/1 | M | Died at 6 m | 1 m | 1st cousins | One Previous abortion | Yes (7d) | Yes (7d) | Yes | Yes | – | classic | 2164 | 311 | 29.9 | 2OH butyric acid, 2-ketoglutraric acid | 128 | 11 |
| II/2 | F | 12y | 1 m | 2nd cousins | – | Yes (2d) | Yes (3d) | Yes (7d) | Yes (7d) | Yes (7d) | classic | 1482 | 300 | 17.5 | NA | 237 | 15.2 |
| II/3 | F | 6y | 3d | 2nd cousins | MSUD female sibling | – | – | Yes (15d) | – | – | mild | 512 | 106 | 8.5 | NA | NA | NA |
| III/4 | M | 2.5y | 15d | 1st cousins | Two previous abortions & two siblings died at 14d | – | – | Yes (7d) | Yes (4d) | Yes (4d) | classic | 3252 | 893 | 11.3 | NAD | 73 | 9.8 |
| IV/5 | M | 2y | 13d | 3rd degree | MSUD female sibling | Yes (7d) | Yes (7d) | Yes (15d) | Yes (7d) | – | classic | 884 | 362 | 15 | NA | 163 | 13 |
| V/6 | F | 3.8y | 37d | 1st cousins | Male sibling died at 1y | Yes (4d) | – | Yes (1 m) | Yes (4d) | – | classic | 2478 | 500 | NA | Lactate,2-OH isovaleric, 2- oxocaproic acid | NA | NA |
| VI/7 | M | 2y | 18d | 2nd cousins | – | Yes (5d) | Yes (5d) | Yes (1 m) | Yes (9d) | Yes (9d) | atypical | 3590 | 405 | NA | 4-OH Phenyl lactate, 4-OH phenyl Pyruvate | 78.2 | 12.3 |
| VII/8 | F | 1.4y | 1 m | 1st cousins | – | – | Yes (4d) | Yes (1 m) | Yes (4d) | Yes (1 m) | classic | 3160 | 432 | 49 | NA | 183 | 29 |
| VIII/9 | F | Died at 35d | 15d | 1st cousins | – | Yes (9d) | Yes (9d) | Yes | Yes (12d) | Yes (12d) | classic | 2696 | 505 | 56.8 | Lactate,2-OH isovaleric,2-oxocaproic acid | 206 | 35.2 |
| IX/10 | F | 9 m | 17d | 1st cousins | – | Yes (3d) | Yes (3d) | Yes (3d) | Yes (13d) | ----- | classic | 2260 | 574 | 33.7 | NA | 135 | 10.2 |
d day, F female, M male, m month, NA data not available, NAD no abnormality detected, NBS newborn screening, y year, Reference interval19: Leucine/isoleucine (0-270) µmol/l; Leucine/phenylalanine ratio (0–5) µmol/l; Valine (0-290) µmol/l; ammonia (11–51)µmol/l; lactate (4.5–19.5) mg/dl.