Table 1.
Presenting symptoms, neurological symptoms, follow-up findings, biochemical findings, and molecular analysis results of the CPT I patients
| # | Gender | Presenting symptoms | Age at first symptom | Age at diagnosis | Follow-up duration | Neurological/pathologic findings |
Metabolic episodes (n) |
Additional findings | Acylcarnitines Initial Follow-up |
Mutation analysis | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PMR | SD | Other | Before diagnosis | At diagnosis | After diagnosis | Treatment compliance | C0d | C0/ C16 + C18e | C0d | C0/ C16 + C18e | ||||||||
| P1 | F | Nonec | None | 17 d | 8 m | − | − | − | − | − | − | − | − | 114 | 51 | 43 | 32 | p.S106N (c.317 G > A)* |
| P2 | M | Nonea | None | 2 d | 4.5 y | − | − | − | − | − | +(1) mild |
+ | Hepatosteatosis (G1) | 137 | 370 | 268 | 3350 | p.P247L (c.740C > T)* |
| P3 | F | Hepatic dysfunctionb (7 m) | 7 m | 1 m | 4 y | − | − | − | − | − | +(1) severe |
− | Vit Kg Died during metabolic episode (4y) |
140 | 411 | 223 | 2027 | p.G197X (c.589G > T)f |
| P4 | M | RLE, seizure | 6.5 y | 6.5 y | 16 y | − | − | Left hemiparesis, EEG: Pathologic Cr MR: Intracranial hemorrhage in frontotemporoparietal area |
− | +(1) severe |
− | + | ECHO: Left ventricular dysfunction, hepatosteatosis (G1), VUR, vit Kg, neutropenia | 263 | 1011 | 368 | 1187 | p.H473Y (c.1417C > T)* |
| P5 | F | Muscle weakness, fatigue | 27 y | 30 y | 10 y | − | − | − | − | − | − | − | Horseshoe kidney | 570 | 780 | 133 | 198 | − |
| P6 | F | Encephalopathy | 5 y | 5 y | 12.7 y | − | + | − | − | +(1) moderate |
− | + | ADHD, hepatosteatosis (G1) | 147 | 1633 | 201 | 418 | p.P247L (c.740C > T)* |
| P7 | F | RLE, encephalopathy, seizure | 22 m | 22 m | 9.7 y | − | + | − | − | +(1) severe |
− | + | − | 169 | 1056 | 178 | 988 | p.A478V (c.1433C > A) c.1338–1 G>Ah |
| P8 | F | Muscle weakness | 1 y | 1.5 y | 12.6 y | − | + | − | − | − | +(3) mild (1) moderate (1) severe (1) |
− | Hepatosteatosis (G2), elevated CK | 318 | 1987 | 203 | 654 | – |
| P9 | F | Muscle weakness, dystonia, PMR | 12 y | 12 y | 13.5 y | + (mild) |
+ | Lower extremity dystonia, EMG: Neurogenic involvement Cr MR: Increased signal intensity in cerebral hemispheres, periventricular white matter, supratentorium |
− | − | − | + | − | 137 | 311 | 205 | 854 | − |
| P10 | M | Seizure, PMR | 3.5 y | 3.5 y | 14.2 y | + (mild) |
+ | Ataxia Cr MR: Symmetrical hyperintense lesions in bilateral parietal periventricular white matter |
+(1) mild |
− | − | − | − | 310 | 2384 | 521 | 4341 | − |
| P11 | M | RLE, encephalopathy, status epilepticus, PMR | 11 m | 11 m | 18.6 y | + (mild) |
+ | Cr MR: Hyperintensity in left lateral periventricular area | − | +(1) severe |
+(7) mild (3) moderate (4) |
− | − | 115 | 1437 | 265 | 1766 | p.E525GfsX32 (c.1573)* |
| P12 | M | Recurrent pancreatitis, PMR | 18 m | 4 y | 7.7 y | + (moderate) |
+ | − | +(2) mild (2) |
− | +(1) mild |
− | Autism, elevated CK, DM-I (11 y) | 255 | 2318 | 258 | 3225 | p.G446C (c.1336 G > T)* |
| P13 | F | RLE, encephalopathy, status epilepticus, PMR | 3 y | 3.5 y | 3.5 y | + (moderate) |
+ | Cr MR: Wide sulci, and gliosis in the parieto-occipital area | +(1) mild |
+(1) severe |
+(1) severe |
− | ECHO: Asymmetric VSH, hepatosteatosis (G2) Died during metabolic episode (8 y) |
230 | 164 | 198 | 1237 | − |
| P14 | F | PMR | 2 y | 2 y | − | + (severe) |
+ | No walking | − | − | − | + | − | 175 | 324 | 120 | 387 | − |
P: Patient, F: female, M: male, y: years, m: months, d: days ADHD: Attention deficit hyperactivity disorder, CK: Creatine kinase, Cr MR: Cranial magnetic resonance imaging, DM: Diabetes mellitus, EEG: Electroencephalogram, EMG: Electromyography, G: Grade, PMR: Psychomotor retardation, SD: Speech disorder, VUR: Vesicoureteral reflux, VSH: Ventricular septal hypertrophy.
Diagnosed by expanded newborn screening based on family history *homozygous mutations
Diagnosed by expanded newborn screening, lost to follow-up until became symptomatic at 7 months of age
Diagnosed by expanded newborn screening
(10–90) (μM/L)
(<15)
Heterozygous mutation in both parents
Vitamin K supplementation at follow-up.
Compound heterozygous mutations.