Table 4.
Characteristics of cases manifesting symptoms related to VLCAD deficiency
| Case | C14:1 NBS (µM) |
Neonatal Symptomsa | Symptoms/abnormal lab findings at or after initial evaluation |
Age at 1st CK elevation (yrs)b |
Peak CK level recorded (µM) |
Allele 1 | Allele 2 | Follow- up time (yrs) |
Age At last contact (yrs) |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 3.29 | No | Hypoglycemia Respiratory Distress |
-- | -- | G439D | M443R | 1.5 | 2.6 |
| 20 | 3.7 | Hypoglycemia Respiratory Distress Poor Feeding |
Hypothermia Poor Feeding Tachypnea Rhabdomyolysis Cardiomyopathy |
1 | 50,000 | c.294_297delGACA | c.IVS11+1G>A | 1.9 | 2.9 |
| 22 | 1.2 | No | Rhabdomyolysis | 2.6 | 2,700 | c.848T>C | c.1182(+3)G>T | 3.1 | 4.1 |
| 24 | 3.29 | Distress IV Fluid |
Hypoglycemia Hyperammonemia |
2.5 | 21,000 | c.1316G>A | c.1328T>G | 3 | 5.5 |
| 25 | 2.83 | No | Rhabdomyolysis | 1.3 | 40.500 | c.1182+1G>A | c.566T>C | 4.1 | 4.8 |
| 26 | -- | Prematurity Distress IV Fluid |
Hypoglycemia Lethargy Rhabdomyolysis |
6.1 | 142,520 | c.1617T>C | Dup1707-1716 | 3.1 | 8.9 |
| 28 | 2.6 | Weight loss at 5 days | Rhabdomyolysis | 1.9 | 1,000 | c.848T>C | c.848T>C | 0.0 | 1.9 |
| 47 | 3.6 | No | Rhabdomyolysis | 3.2 | 29,534 | c.622G>A | c.689C>T | 0.3 | 3.4 |
| 49 | 3.5 | No | Rhabdomyolysis | 3.4 | 49,324 | c.1375C>T | c.1375C>T | 0.5 | 3.9 |
| 54 | -- | No | Rhabdomyolysis | 12.7 | 63,000 | A770del | c.1613 G>C – MS | 6.3 | 16.7 |
| 57 | -- | No | -- | 4.3 | 367 | c.848T>C | c.1532 G>C | 4.1 | 4.9 |
| *58 | 4.89 | Distress | Hypoglycemia Hypotonia Apnea Hypothermia Arrhythmia Long QT Cardiomyopathy |
-- | -- | c.1173-1174insT | c.1806-7delCT | 0.0 | 4.5 |
| *59 | 10.89 | Distress IV Fluid |
Hypoglycemia Lethargy Acidosis Hypotonia Hypothermia |
0.7 | 805 | c.1173-1174insT | c.1806-7delCT | 2.1 | 2.1 |
| 62 | 4.38 | Distress IV Fluid Parenteral Nutrition |
Pneumonia Infections Rhabdomyolysis |
3.7 | 9,786 | c.839A>G | c.1532G>A | 4.6 | 6.1 |
| 63 | 1.36 | No | Rhabdomyolysis | 1.7 | 2,297 | C848T>C | 1505T>C | 5.1 | 4.6 |
| 71 | 2.76 | No | Elevated CK/LFT | 0.3 | 396 | c.439C>T | c.956C>A | 1.4 | 3.0 |
| 72 | 4.47 | Distress IV Fluid Prematurity |
Respiratory Distress Mild Cardiomegaly Elevated CK/LFT |
-- | -- | c.308A>G | c.1807-1808delCT | 0.0 | 1.0 |
| 73 | 1.33 | Poor Feeder | Elevated LFT Poor Growth/Feeding |
-- | 175 | c.829-832delGAG | c.848T>C c.950T>C |
2.0 | 4.3 |
| 75 | 5.12 | No | Poor Feeding | -- | -- | c.605T>C | c.848T>C | 0.0 | 1.2 |
a
Neonatal symptoms are recorded in the IBEM-IS as part of the initial medical history intake and are defined to have occurred within the first 28 days of life.
b
For all subjects that developed rhabdomyol ysis, the age at first CK elevation was also the age at which the peak CK was recorded except for subject 54 whose peak CK was reported at 15.5 years of age.