| CPT1A |
255120 |
Musculoskeletal-diseases |
|
musculoskeletal |
#11286380 #11350183 #16146704 |
| CPT1A |
255120 |
Muscular-diseases |
|
musculoskeletal |
#11286380 #11350183 #16146704 |
| CPT1A |
255120 |
Rhabdomyolysis |
occasional
|
musculoskeletal |
11286380 11350183 |
| CPT1A |
255120 |
Myoglobinuria |
myoglobinemia
|
musculoskeletal |
11286380 16146704 |
| CPT1A |
255120 |
Digestive-system-diseases |
|
gastrointestinal |
#9691089 #10625081 #11286380 #11286383 #11350182 #11350183 #11441142 #12189492 #15669684 #16146704 |
| CPT1A |
255120 |
Gastrointestinal-diseases |
|
gastrointestinal |
#11286380 #11350183 |
| CPT1A |
255120 |
Gastroenteritis |
acute; viral; rotavirus
|
gastrointestinal |
11286380 11350183 |
| CPT1A |
255120 |
Liver-diseases |
hepatic dysfunction; liver dysfunction
|
gastrointestinal |
#9691089 10625081 #11286380 #11286383 #11350182 #11441142 #12189492 15669684 #16146704 |
| CPT1A |
255120 |
Fatty-liver |
extensive storage of neutral lipids on oil red O staining; fatty degeneration; macrovesicular fatty changes; microvesicular fatty changes; steatosis
|
gastrointestinal |
11286383 11441142 12189492 15669684 |
| CPT1A |
255120 |
Liver-enzymes-abnormal |
AST elevated; ALT elevated; GGT elevated; elevated transaminases
|
gastrointestinal |
9691089 10625081 11286380 11286383 11350182 11441142 15669684 16146704 |
| CPT1A |
255120 |
Hepatomegaly |
progressive; large liver
|
gastrointestinal |
9691089 11286380 11286383 11350182 11441142 12189492 16146704 |
| CPT1A |
255120 |
Pancreatic-diseases |
|
gastrointestinal |
#11350183 |
| CPT1A |
255120 |
Pancreatitis |
|
gastrointestinal |
11350183 |
| CPT1A |
255120 |
Abdominal-pain |
right upper quadrant pain
|
gastrointestinal |
10625081 11286380 |
| CPT1A |
255120 |
Feeding-difficulties |
|
gastrointestinal |
9691089 |
| CPT1A |
255120 |
Diarrhea |
torovirus positive diarrhea
|
gastrointestinal |
9691089 11286380 11441142 |
| CPT1A |
255120 |
Vomiting |
repeated vomiting
|
gastrointestinal |
10625081 11286383 11441142 16146704 |
| CPT1A |
255120 |
Respiratory-tract-diseases |
|
respiratory |
#10625081 #11286380 |
| CPT1A |
255120 |
Lung-diseases |
|
respiratory |
#10625081 |
| CPT1A |
255120 |
Pneumonia |
bronchopneumonia
|
respiratory |
10625081 |
| CPT1A |
255120 |
Respiration-disorders |
|
respiratory |
#10625081 #11286380 |
| CPT1A |
255120 |
Respiratory-insufficiency |
respiratory arrest; apnea
|
respiratory |
10625081 11286380 |
| CPT1A |
255120 |
Nervous-system-diseases |
|
neurologic |
#9691089 #11286380 #11286383 #11350182 #11350183 #11441142 #15669684 #16146704 |
| CPT1A |
255120 |
Central-nervous-system-diseases |
|
neurologic |
#9691089 #11286380 #11286383 #11350182 #11441142 #15669684 #16146704 |
| CPT1A |
255120 |
Brain-diseases |
|
neurologic |
#9691089 #11286380 #11286383 #11350182 #11441142 #15669684 #16146704 |
| CPT1A |
255120 |
Brain-edema |
MRI findings; cerebral edema
|
neurologic |
11286380 16146704 |
| CPT1A |
255120 |
Encephalopathy |
encephalopatic; episodes
|
neurologic |
9691089 11286380 11441142 16146704 |
| CPT1A |
255120 |
Seizures |
hypoglycaemic seizure
|
neurologic |
11286383 11350182 11441142 15669684 |
| CPT1A |
255120 |
Neurologic-manifestations |
|
neurologic |
#9691089 #11286380 #11350182 #11350183 #11441142 #15669684 #16146704 |
| CPT1A |
255120 |
Gait-disorders |
frequent falling
|
neurologic |
9691089 |
| CPT1A |
255120 |
Neurobehavioral-manifestations |
|
neurologic |
#9691089 #11286380 #11350182 #11350183 #11441142 #15669684 #16146704 |
| CPT1A |
255120 |
Consciousness-disorders |
coma; fainting; deterioration of consciousness; unconscious; obtundation
|
neurologic |
11286380 11350182 11350183 11441142 16146704 |
| CPT1A |
255120 |
Mental-retardation |
moderate; low average intellectual abilities; mental status altered
|
neurologic |
11350182 15669684 |
| CPT1A |
255120 |
Developmental-delay |
motor retardation
|
neurologic |
9691089 |
| CPT1A |
255120 |
Irritability |
|
neurologic |
16146704 |
| CPT1A |
255120 |
Lethargy |
lethargic; drowsy; drowsiness; apathy
|
neurologic |
9691089 11286380 11441142 16146704 |
| CPT1A |
255120 |
Neuromuscular-manifestations |
|
neurologic |
#9691089 #11441142 |
| CPT1A |
255120 |
Muscle-hypotonia |
|
neurologic |
9691089 |
| CPT1A |
255120 |
Muscle-weakness |
|
neurologic |
9691089 |
| CPT1A |
255120 |
Muscle-aching-and-stiffness |
muscle pain; cramping
|
neurologic |
11441142 |
| CPT1A |
255120 |
Reflexes-abnormal |
|
neurologic |
#9691089 |
| CPT1A |
255120 |
Hyporeflexia |
decreased tendon reflexes
|
neurologic |
9691089 |
| CPT1A |
255120 |
Eye-diseases |
|
ophthalmologic |
#11286380 |
| CPT1A |
255120 |
Ocular-motility-disorders |
|
ophthalmologic |
#11286380 |
| CPT1A |
255120 |
Strabismus |
squint; intermittend strabismus
|
ophthalmologic |
11286380 |
| CPT1A |
255120 |
Genitourinary-diseases |
|
genitourinary |
#10625081 #11286380 #11350183 #11441142 #15669684 |
| CPT1A |
255120 |
Urologic-diseases |
|
genitourinary |
#11286380 #11350183 #11441142 #15669684 |
| CPT1A |
255120 |
Kidney-diseases |
|
genitourinary |
#11286380 #11350183 #11441142 #15669684 |
| CPT1A |
255120 |
Renal-insufficiency |
renal tubular acidosis; chloride levels elevated; low serum bicarbonate
|
genitourinary |
11286380 11350183 |
| CPT1A |
255120 |
Renal-fatty-infiltration |
diffusely echogenic kidneys consistent with fatty infiltration
|
genitourinary |
15669684 |
| CPT1A |
255120 |
Uremia |
blood urea nitrogen elevated
|
genitourinary |
11441142 |
| CPT1A |
255120 |
Female-genital-diseases |
|
genitourinary |
#10625081 |
| CPT1A |
255120 |
Pregnancy-complications |
hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome; acute fatty liver of pregnancy; AFLP syndrome; hyperemesis gravidarum; obstetric risks
|
genitourinary |
10625081 |
| CPT1A |
255120 |
Cardiovascular-diseases |
|
cardiovascular |
#10625081 #11286380 #12111367 #12189492 |
| CPT1A |
255120 |
Heart-diseases |
|
cardiovascular |
#11286380 |
| CPT1A |
255120 |
Arrhythmia |
bradycardia; ventricular fibrillation; tachycardia; heart block; right bundle
|
cardiovascular |
11286380 |
| CPT1A |
255120 |
Cardiorespiratory-arrest |
cardiac insufficiency
|
cardiovascular |
12111367 12189492 |
| CPT1A |
255120 |
Vascular-diseases |
|
cardiovascular |
#10625081 |
| CPT1A |
255120 |
Hypertension |
arterial hypertension; pregnancy complication
|
cardiovascular |
10625081 |
| CPT1A |
255120 |
Hematologic-diseases |
|
hematologic |
#11350183 |
| CPT1A |
255120 |
Blood-coagulation-disorders |
hypercoagulopathy; deep vein thrombosis; left femoral vein; iliac veins
|
hematologic |
11350183 |
| CPT1A |
255120 |
Metabolic-diseases |
|
metabolic |
#9691089 #10625081 #11286380 #11286383 #11350182 #11350183 #11441142 #12111367 #12189492 #15669684 #16146704 |
| CPT1A |
255120 |
Acid-base-imbalance |
|
metabolic |
#9691089 #11286380 #11350182 #11441142 #12111367 #12189492 #15669684 |
| CPT1A |
255120 |
Acidosis |
low pH; metabolic acidosis; lactic acidosis
|
metabolic |
9691089 11286380 11441142 15669684 |
| CPT1A |
255120 |
Hypoketosis |
hypoketotic
|
metabolic |
9691089 11350182 12111367 12189492 |
| CPT1A |
255120 |
Metabolic-brain-diseases |
|
metabolic |
#10625081 #11350183 #11441142 #12111367 |
| CPT1A |
255120 |
Reye-like-symptoms |
episodes; Reye like illness; flu like illness
|
metabolic |
10625081 11350183 11441142 12111367 |
| CPT1A |
255120 |
Dyslipidemias |
|
metabolic |
#11286380 #11286383 |
| CPT1A |
255120 |
Hyperlipidemia |
transient hyperlipidaemia
|
metabolic |
11286380 #11286383 |
| CPT1A |
255120 |
Hypertriglyceridemia |
serum triglycerides elevated
|
metabolic |
11286383 |
| CPT1A |
255120 |
Glucose-metabolism-disorders |
|
metabolic |
#9691089 #10625081 #11286380 #11350182 #11441142 #12111367 #12189492 #15669684 #16146704 |
| CPT1A |
255120 |
Hypoglycemia |
aketotic; hypoketotic hypoglycemia; episodes; fasting related episodes
|
metabolic |
9691089 10625081 11286380 11350182 11441142 12111367 12189492 15669684 16146704 |
| CPT1A |
255120 |
Hyperammonemia |
ammonia levels elevated; blood ammonia elevated; mild; moderate
|
metabolic |
11286380 11350183 15669684 |
| CPT1A |
255120 |
Hyperbilirubinemia |
total bilirubin elevated; direct bilirubin elevated; jaundice
|
metabolic |
10625081 15669684 |
| CPT1A |
255120 |
Phosphorus-metabolism-disorders |
|
metabolic |
#11286380 |
| CPT1A |
255120 |
Hypophosphatemia |
|
metabolic |
11286380 |
| CPT1A |
255120 |
Water-electrolyte-imbalance |
|
metabolic |
#11286380 #11441142 #15669684 |
| CPT1A |
255120 |
Dehydration |
|
metabolic |
11286380 11441142 15669684 |
| CPT1A |
255120 |
Acylcarnitine-profile-abnormal |
acylcarnitine ratios abnormal; acetyl carnitines elevated; propionyl carnitines elevated
|
metabolic |
11286383 15669684 16146704 |
| CPT1A |
255120 |
Carnitine-levels-abnormal |
elevated total carnitine; elevated free carnitine
|
metabolic |
11286380 11286383 11350182 11441142 12111367 15669684 16146704 |
| CPT1A |
255120 |
Fatty-acids-abnormal |
myristic acids abnormal; palmitic acids abnormal; triglycerids abnormal; free fatty acids abnormal; unsaturated fatty acids elevated; plasma
|
metabolic |
9691089 11286380 11441142 12189492 15669684 |
| CPT1A |
255120 |
Organic-acids-abnormal |
dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxy sebacic aciduria; dodecenedioic aciduria; decadienedioic aciduria; decenedioic aciduria; 3 hydroxy dodecenedioic aciduria; 3 OH glutaric aciduria; ketonuria
|
metabolic |
9691089 11286380 11441142 15669684 16146704 |
| CPT1A |
255120 |
Dicarboxylic-aciduria |
dicarboxylic acids elevated; hypoketotic dicarboxylic aciduria; medium chain dicarboxylic aciduria
|
metabolic |
9691089 11286380 11441142 15669684 16146704 |
| CPT1A |
255120 |
Immune-system-diseases |
|
immunologic |
#9691089 #10625081 #11286380 #11350183 #11441142 #16146704 |
| CPT1A |
255120 |
Infections |
otitis media; respiratory tract infections; pyrexia
|
immunologic |
9691089 10625081 11286380 11350183 11441142 16146704 |
| CPT1A |
255120 |
Body-temperature-changes |
|
miscellaneous |
#11286380 #11286383 #16146704 |
| CPT1A |
255120 |
Fever |
febrile episodes
|
miscellaneous |
11286380 11286383 16146704 |
| CPT1A |
255120 |
Creatine-kinase-abnormal |
serum; creatine phosphokinase elevated; CPK elevated
|
miscellaneous |
11286380 11286383 11350182 11441142 16146704 |
