| ACAT1 |
203750 |
Digestive-system-diseases |
|
gastrointestinal |
#7173255 #8930414 #9700610 #10604145 #11914035 #12754704 #15877211 |
| ACAT1 |
203750 |
Gastrointestinal-diseases |
|
gastrointestinal |
#10604145 #11914035 #12754704 |
| ACAT1 |
203750 |
Gastroenteritis |
|
gastrointestinal |
10604145 11914035 12754704 |
| ACAT1 |
203750 |
Liver-diseases |
|
gastrointestinal |
#15877211 |
| ACAT1 |
203750 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated
|
gastrointestinal |
15877211 |
| ACAT1 |
203750 |
Abdominal-pain |
|
gastrointestinal |
7173255 |
| ACAT1 |
203750 |
Diarrhea |
|
gastrointestinal |
15877211 |
| ACAT1 |
203750 |
Vomiting |
|
gastrointestinal |
7173255 8930414 9700610 |
| ACAT1 |
203750 |
Respiratory-tract-diseases |
|
respiratory |
#7173255 #8930414 #11161836 |
| ACAT1 |
203750 |
Respiration-disorders |
polypnea; apnea
|
respiratory |
#7173255 #8930414 11161836 |
| ACAT1 |
203750 |
Hyperventilation |
polypnea
|
respiratory |
7173255 8930414 |
| ACAT1 |
203750 |
Nervous-system-diseases |
|
neurologic |
#1349518 #7173255 #8930414 #9700610 #10604145 #11161836 #12754704 #15877211 |
| ACAT1 |
203750 |
Central-nervous-system-diseases |
|
neurologic |
#1349518 #11161836 |
| ACAT1 |
203750 |
Brain-diseases |
|
neurologic |
#1349518 #11161836 |
| ACAT1 |
203750 |
Seizures |
seizures; convulsions
|
neurologic |
11161836 |
| ACAT1 |
203750 |
Electroencephalogram-abnormal |
EEG alterations; EEG abnormalities
|
neurologic |
1349518 |
| ACAT1 |
203750 |
Neurologic-manifestations |
|
neurologic |
#1349518 #7173255 #8930414 #9700610 #10604145 #11161836 #12754704 #15877211 |
| ACAT1 |
203750 |
Ataxia |
truncal
|
neurologic |
7173255 11161836 |
| ACAT1 |
203750 |
Neurobehavioral-manifestations |
|
neurologic |
#7173255 #8930414 #9700610 #10604145 #11161836 #12754704 #15877211 |
| ACAT1 |
203750 |
Speech-disorders |
speech problems
|
neurologic |
7173255 |
| ACAT1 |
203750 |
Consciousness-disorders |
coma; consciousness problems; low level of consciousness
|
neurologic |
7173255 8930414 9700610 10604145 12754704 15877211 |
| ACAT1 |
203750 |
Mental-retardation |
about one third of patients
|
neurologic |
11161836 |
| ACAT1 |
203750 |
Developmental-delay |
psychomotor retardation; ponderal delay; statural delay; staturo ponderal delay
|
neurologic |
8930414 10604145 |
| ACAT1 |
203750 |
Lethargy |
|
neurologic |
9700610 10604145 15877211 |
| ACAT1 |
203750 |
Neuromuscular-manifestations |
|
neurologic |
#1349518 #7173255 #11161836 |
| ACAT1 |
203750 |
Muscle-hypotonia |
muscle hypotonus; generalized hypotonia
|
neurologic |
1349518 7173255 11161836 |
| ACAT1 |
203750 |
Paralysis-Paresis |
diplegia
|
neurologic |
7173255 |
| ACAT1 |
203750 |
Genitourinary-diseases |
|
genitourinary |
#7173255 #10604145 #15877211 |
| ACAT1 |
203750 |
Urologic-diseases |
|
genitourinary |
#7173255 #10604145 #15877211 |
| ACAT1 |
203750 |
Kidney-diseases |
|
genitourinary |
#7173255 #10604145 #15877211 |
| ACAT1 |
203750 |
Renal-insufficiency |
renal failure
|
genitourinary |
10604145 |
| ACAT1 |
203750 |
Creatinine-levels-abnormal |
elevated
|
genitourinary |
7173255 |
| ACAT1 |
203750 |
Uremia |
increased serum urea; urea elevated
|
genitourinary |
7173255 15877211 |
| ACAT1 |
203750 |
Cardiovascular-diseases |
|
cardiovascular |
#10604145 |
| ACAT1 |
203750 |
Cardiorespiratory-arrest |
sudden infant death
|
cardiovascular |
10604145 |
| ACAT1 |
203750 |
Metabolic-diseases |
|
metabolic |
#1346617 #1349518 #7173255 #8103405 #8930414 #9700610 #10604145 #11161836 #11914035 #12754704 #15877211 |
| ACAT1 |
203750 |
Acid-base-imbalance |
|
metabolic |
#1346617 #1349518 #7173255 #8103405 #8930414 #9700610 #10604145 #11161836 #11914035 #12754704 #15877211 |
| ACAT1 |
203750 |
Acidosis |
metabolic acidosis; ketoacidosis
|
metabolic |
1349518 7173255 8103405 8930414 9700610 10604145 11161836 11914035 12754704 15877211 |
| ACAT1 |
203750 |
Ketosis |
ketoacidotic attacks; ketonuria; ketoacidotic crisis; acetone like breath odor
|
metabolic |
1346617 7173255 8930414 9700610 10604145 11161836 11914035 12754704 15877211 |
| ACAT1 |
203750 |
Metabolic-brain-diseases |
CSF protein level elevated
|
metabolic |
7173255 |
| ACAT1 |
203750 |
Glucose-metabolism-disorders |
|
metabolic |
#8930414 #10604145 #11914035 #15877211 |
| ACAT1 |
203750 |
Hyperglycemia |
moderate hyperglycemia
|
metabolic |
8930414 10604145 |
| ACAT1 |
203750 |
Hypoglycemia |
severe hypoglycemia
|
metabolic |
11914035 15877211 |
| ACAT1 |
203750 |
Hyperammonemia |
ammonia levels elevated; mild
|
metabolic |
10604145 11161836 12754704 |
| ACAT1 |
203750 |
Hyperuricemia |
hyperuricaemia
|
metabolic |
15877211 |
| ACAT1 |
203750 |
Aminoacid-levels-abnormal |
elevated glycine; hyperglycinemia; valine elevated; leucine elevated; isoleucine elevated
|
metabolic |
8930414 11161836 |
| ACAT1 |
203750 |
Water-electrolyte-imbalance |
|
metabolic |
#7173255 #9700610 #11161836 |
| ACAT1 |
203750 |
Dehydration |
|
metabolic |
7173255 9700610 11161836 |
| ACAT1 |
203750 |
Acylcarnitine-profile-abnormal |
2 methyl 3 hydroxybutyrylcarnitines; elevated C5(tiglyl)carnitines; propionyl acylcarnitines; isobutyryl acylcarnitines; isovaleryl acylcarnitines
|
metabolic |
8930414 15877211 |
| ACAT1 |
203750 |
Carnitine-levels-abnormal |
decreased total carnitine; decreased free carnitine
|
metabolic |
8930414 9700610 |
| ACAT1 |
203750 |
Organic-acids-abnormal |
tiglylglycine uria; 2 methyl 3 hydroxybutyric aciduria; 2 methylacetoacetic aciduria; elevated 2 butanone; 2 methylglutaconate elevated
|
metabolic |
1346617 1349518 7173255 8103405 8930414 10604145 11161836 11914035 12754704 15877211 |
| ACAT1 |
203750 |
Dicarboxylic-aciduria |
|
metabolic |
8930414 |
| ACAT1 |
203750 |
Hydroxyisovaleric-aciduria |
3 hydroxyisovaleric acid elevated; 3 hydroxyisovalerate elevated
|
metabolic |
8930414 |
| ACAT1 |
203750 |
Tiglylglycinuria |
tiglylglycine levels elevated
|
metabolic |
1346617 1349518 7173255 8930414 12754704 15877211 |
| ACAT1 |
203750 |
Immune-system-diseases |
|
immunologic |
#1346617 #1349518 #7173255 #8930414 #10604145 #12754704 |
| ACAT1 |
203750 |
Infections |
respiratory tract infections; rhinopharyngitis; frequent episodes; otitis media
|
immunologic |
1346617 1349518 7173255 8930414 10604145 12754704 |
| ACAT1 |
203750 |
Body-temperature-changes |
|
miscellaneous |
#7173255 |
| ACAT1 |
203750 |
Fever |
episodes; febrile illnesses
|
miscellaneous |
7173255 |
