| PCCB |
606054 |
Digestive-system-diseases |
|
gastrointestinal |
#6820422 #7957390 #9461363 #9683601 #10488817 #10502773 #10780784 #10910839 #12409268 #12559849 #15464417 |
| PCCB |
606054 |
Gastrointestinal-diseases |
malnutrition
|
gastrointestinal |
#10488817 10780784 |
| PCCB |
606054 |
Gastroenteritis |
|
gastrointestinal |
10780784 |
| PCCB |
606054 |
Gastrointestinal-hemorrhage |
gastrointestinal bleeding
|
gastrointestinal |
10488817 |
| PCCB |
606054 |
Liver-diseases |
|
gastrointestinal |
#10488817 |
| PCCB |
606054 |
Fatty-liver |
microvesicular fat accumulation
|
gastrointestinal |
10488817 |
| PCCB |
606054 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated
|
gastrointestinal |
10488817 |
| PCCB |
606054 |
Feeding-difficulties |
refusal to feed; dietary treatment required; poor feeding; feeding intolerance
|
gastrointestinal |
6820422 7957390 9683601 10910839 12409268 15464417 |
| PCCB |
606054 |
Diarrhea |
|
gastrointestinal |
6820422 7957390 9683601 10780784 |
| PCCB |
606054 |
Vomiting |
frequent; persistent; treatment resistant
|
gastrointestinal |
6820422 7957390 9461363 9683601 10502773 12409268 12559849 15464417 |
| PCCB |
606054 |
Respiratory-tract-diseases |
|
respiratory |
#6820422 #7957390 #9683601 #10488817 #10910839 |
| PCCB |
606054 |
Lung-diseases |
|
respiratory |
#6820422 |
| PCCB |
606054 |
Pneumonia |
died with symptoms of pneumonia
|
respiratory |
6820422 |
| PCCB |
606054 |
Respiration-disorders |
apnea; pneumothoraces; weak respiratory effort; respiratory distress
|
respiratory |
7957390 9683601 10488817 10910839 |
| PCCB |
606054 |
Nervous-system-diseases |
|
neurologic |
#6820422 #7957390 #9461363 #9683601 #10488817 #10502773 #10780784 #10910839 #12409268 #12559849 #15464417 #15614906 #16324621 |
| PCCB |
606054 |
Central-nervous-system-diseases |
|
neurologic |
#6820422 #7957390 #9461363 #9683601 #10488817 #10780784 #12409268 #15614906 #16324621 |
| PCCB |
606054 |
Brain-diseases |
|
neurologic |
#6820422 #7957390 #9461363 #9683601 #10488817 #10780784 #12409268 #16324621 |
| PCCB |
606054 |
Basal-ganglia-diseases |
MRI findings; bilateral symmetric; basal ganglia necrosis; fatal symmetric necrosis
|
neurologic |
9461363 10488817 16324621 |
| PCCB |
606054 |
Seizures |
epilepsy; partial epilepsy; spasms; infantile spasms; convulsions
|
neurologic |
7957390 10488817 10780784 12409268 16324621 |
| PCCB |
606054 |
Cerebral-atrophy |
frontal atrophy; cortical atrophy; subcortical atrophy; brain atrophy; cerebral cortical atrophy
|
neurologic |
10488817 10780784 12409268 |
| PCCB |
606054 |
Cerebral-necrosis |
basal ganglia necrosis; fatal symmetric necrosis
|
neurologic |
9461363 |
| PCCB |
606054 |
Electroencephalogram-abnormal |
dysrythmic pattern; nonspecific slowing; hypsarrhythmia; high voltage irregular delta slowing
|
neurologic |
6820422 9461363 9683601 12409268 16324621 |
| PCCB |
606054 |
Movement-disorders |
generalized dystonic movements
|
neurologic |
9461363 #10488817 #10780784 15614906 |
| PCCB |
606054 |
Choreatic-disorders |
choreoathetosis
|
neurologic |
10488817 |
| PCCB |
606054 |
Dystonic-disorders |
dystonic movements; generalized
|
neurologic |
9461363 10780784 |
| PCCB |
606054 |
Athetosis |
choreoathetosis
|
neurologic |
10488817 |
| PCCB |
606054 |
Tremor |
|
neurologic |
10780784 |
| PCCB |
606054 |
Extrapyramidal-tract-signs |
|
neurologic |
9461363 |
| PCCB |
606054 |
Neuronal-loss-and-lesions |
MRI findings; arachnoidal cysts; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal; basal ganglia enlargement; putamina abnormal; caudate abnormal; pallidum abnormal; subarachnoidal space enlarged; thalamus abnormal; subthalamic nucleus abnormal
|
neurologic |
9461363 10488817 10780784 16324621 |
| PCCB |
606054 |
Neurologic-manifestations |
|
neurologic |
#6820422 #7957390 #9461363 #9683601 #10488817 #10502773 #10780784 #10910839 #12409268 #12559849 #15464417 |
| PCCB |
606054 |
Neurobehavioral-manifestations |
|
neurologic |
#6820422 #7957390 #9461363 #9683601 #10488817 #10502773 #10780784 #10910839 #12409268 #12559849 #15464417 |
| PCCB |
606054 |
Speech-disorders |
speech problems
|
neurologic |
#9461363 10780784 |
| PCCB |
606054 |
Dysarthria |
|
neurologic |
9461363 |
| PCCB |
606054 |
Consciousness-disorders |
coma; pre coma; somnolence
|
neurologic |
6820422 7957390 9461363 9683601 |
| PCCB |
606054 |
Mental-retardation |
|
neurologic |
10488817 10780784 12559849 |
| PCCB |
606054 |
Developmental-delay |
psychomotor delay; developmental retardation
|
neurologic |
9683601 10488817 10780784 12409268 15464417 15614906 |
| PCCB |
606054 |
Irritability |
|
neurologic |
9461363 |
| PCCB |
606054 |
Lethargy |
apathy
|
neurologic |
7957390 10502773 10910839 12409268 12559849 15464417 |
| PCCB |
606054 |
Neuromuscular-manifestations |
|
neurologic |
#7957390 #9461363 #10488817 #10502773 #10780784 #10910839 #12409268 #12559849 #15464417 |
| PCCB |
606054 |
Muscle-hypertonia |
hypertonic
|
neurologic |
10488817 |
| PCCB |
606054 |
Muscle-spasticity |
spastic tetraparesis
|
neurologic |
10488817 |
| PCCB |
606054 |
Muscle-hypotonia |
axial hypotonia; head control loss
|
neurologic |
7957390 9461363 10488817 10502773 10780784 10910839 12409268 12559849 15464417 |
| PCCB |
606054 |
Muscle-weakness |
|
neurologic |
10780784 12409268 |
| PCCB |
606054 |
Paralysis-Paresis |
spastic tetraparesis; quadriplegia
|
neurologic |
10488817 |
| PCCB |
606054 |
Stroke-like-episodes |
metabolic stroke; basal ganglia involvement; basal ganglia infarction
|
neurologic |
10780784 |
| PCCB |
606054 |
Genitourinary-diseases |
|
genitourinary |
#10488817 |
| PCCB |
606054 |
Urologic-diseases |
|
genitourinary |
#10488817 |
| PCCB |
606054 |
Kidney-diseases |
|
genitourinary |
#10488817 |
| PCCB |
606054 |
Nephrocalcinosis |
renal calculi
|
genitourinary |
10488817 |
| PCCB |
606054 |
Cardiovascular-diseases |
|
cardiovascular |
#2037281 #6820422 #7957390 #9461363 #9683601 #10488817 #10780784 #12559849 #15464417 #15614906 |
| PCCB |
606054 |
Heart-diseases |
|
cardiovascular |
#10488817 #10780784 |
| PCCB |
606054 |
Cardiomyopathy |
myocardiopathy; cardiopathy
|
cardiovascular |
10780784 |
| PCCB |
606054 |
Cardiorespiratory-arrest |
early death; cardiac arrest
|
cardiovascular |
2037281 6820422 7957390 9461363 9683601 10780784 12559849 15464417 15614906 |
| PCCB |
606054 |
Heart-valve-diseases |
aortic valvular insufficiency; dilated aortic root
|
cardiovascular |
10488817 |
| PCCB |
606054 |
Hematologic-diseases |
|
hematologic |
#6820422 #9683601 #10488817 #12409268 |
| PCCB |
606054 |
Blood-coagulation-disorders |
|
hematologic |
#10488817 |
| PCCB |
606054 |
Petechiae |
|
hematologic |
10488817 |
| PCCB |
606054 |
Blood-platelet-disorders |
|
hematologic |
#10488817 #12409268 |
| PCCB |
606054 |
Thrombocytopenia |
|
hematologic |
10488817 12409268 |
| PCCB |
606054 |
Blood-protein-disorders |
serum protein levels decreased; total protein decreased
|
hematologic |
6820422 9683601 |
| PCCB |
606054 |
Bone-marrow-diseases |
hypocellular; hypocellular marrow
|
hematologic |
10488817 |
| PCCB |
606054 |
Hemoglobin-levels-abnormal |
hemoglobin deficiency
|
hematologic |
10488817 |
| PCCB |
606054 |
Leukocyte-disorders |
|
hematologic |
#6820422 #9683601 |
| PCCB |
606054 |
Leukopenia |
neutropenia
|
hematologic |
6820422 9683601 |
| PCCB |
606054 |
Metabolic-diseases |
|
metabolic |
#2037281 #6820422 #7957390 #9461363 #9683601 #10488817 #10502773 #10767396 #10780784 #10820128 #10910839 #12409268 #12559849 #15464417 #15614906 |
| PCCB |
606054 |
Acid-base-imbalance |
|
metabolic |
#2037281 #6820422 #9461363 #9683601 #10502773 #10780784 #10820128 #10910839 #12409268 #12559849 #15614906 |
| PCCB |
606054 |
Acidosis |
lactic acidosis; metabolic acidosis; CSF; blood
|
metabolic |
2037281 6820422 9461363 9683601 10502773 10780784 10820128 10910839 12409268 15614906 |
| PCCB |
606054 |
Ketosis |
ketoacidosis; ketonuria; CSF; blood
|
metabolic |
2037281 6820422 9461363 9683601 10502773 10780784 10910839 12409268 12559849 15614906 |
| PCCB |
606054 |
Alkalosis |
metabolic alkalosis
|
metabolic |
9461363 |
| PCCB |
606054 |
Metabolic-brain-diseases |
|
metabolic |
#10488817 |
| PCCB |
606054 |
Reye-like-symptoms |
reye syndrome like
|
metabolic |
10488817 |
| PCCB |
606054 |
Glucose-metabolism-disorders |
|
metabolic |
#10488817 |
| PCCB |
606054 |
Hypoglycemia |
|
metabolic |
10488817 |
| PCCB |
606054 |
Hyperammonemia |
ammonia levels elevated
|
metabolic |
2037281 9461363 10488817 10820128 10910839 12409268 15614906 |
| PCCB |
606054 |
Aminoacid-levels-abnormal |
hyperglycinemia; elevated glycine; elevated alanine; elevated leucine; elevated isoleucine; elevated valine; elevated methionine; elevated lysine
|
metabolic |
2037281 6820422 9461363 9683601 10820128 12409268 15614906 |
| PCCB |
606054 |
Aminoaciduria |
glycinuria; hyperglycinuria; hyperlysinuria
|
metabolic |
7957390 |
| PCCB |
606054 |
Water-electrolyte-imbalance |
electrolyte imbalance
|
metabolic |
9461363 #10488817 #12409268 |
| PCCB |
606054 |
Dehydration |
|
metabolic |
9461363 10488817 12409268 |
| PCCB |
606054 |
Hypokalemia |
potassium levels decreased
|
metabolic |
9461363 |
| PCCB |
606054 |
Hyponatremia |
sodium levels decreased
|
metabolic |
9461363 |
| PCCB |
606054 |
Acylcarnitine-profile-abnormal |
elevated propionylcarnitine C3 acylcarnitines
|
metabolic |
10488817 10767396 10910839 15614906 |
| PCCB |
606054 |
Acylglycine-profile-abnormal |
propionylglycine elevated; 2 methylbutyrylglycine elevated; 3 methylcrotonylglycine elevated; tiglyglycine elevated
|
metabolic |
9461363 12409268 |
| PCCB |
606054 |
Carnitine-levels-abnormal |
decreased total carnitine; decreased free carnitine; elevated esterified carnitine
|
metabolic |
9461363 15614906 |
| PCCB |
606054 |
Fatty-acids-abnormal |
odd chain fatty acids elevated; plasma
|
metabolic |
15464417 |
| PCCB |
606054 |
Organic-acids-abnormal |
lactic aciduria; propionic aciduria; methycitric aciduria; beta hydroxypropionic aciduria; tiglic aciduria; tiglyl glycinuria; 3 hydroxypropionic acid elevated; propionic acidemia
|
metabolic |
6820422 9461363 9683601 10488817 #10910839 12409268 12559849 15614906 |
| PCCB |
606054 |
Dicarboxylic-aciduria |
dicarboxylic acids elevated
|
metabolic |
12409268 |
| PCCB |
606054 |
Hydroxyisovaleric-aciduria |
3 hydroxyisovaleric acid elevated
|
metabolic |
10910839 |
| PCCB |
606054 |
Hydroxypropionic-aciduria |
3 hydroxypropionic acid elevated
|
metabolic |
6820422 9461363 10488817 10910839 12409268 |
| PCCB |
606054 |
Methylglutaconic-aciduria |
methylglutaconic acid elevated
|
metabolic |
12409268 |
| PCCB |
606054 |
Tiglylglycinuria |
tiglylglycine levels elevated
|
metabolic |
6820422 10488817 12409268 |
| PCCB |
606054 |
Endocrine-system-diseases |
|
endocrinologic |
#10780784 |
| PCCB |
606054 |
Gonadal-disorders |
|
endocrinologic |
#10780784 |
| PCCB |
606054 |
Puberty-delayed |
puberal development retarded
|
endocrinologic |
10780784 |
| PCCB |
606054 |
Immune-system-diseases |
|
immunologic |
#2037281 #6820422 #7957390 #9461363 #9683601 #9727749 #10488817 #10780784 |
| PCCB |
606054 |
Infections |
recurrent; scalded skin syndrome; measles; upper respiratory tract; respiratory tract infections; intercurrent infection; urinary tract infections
|
immunologic |
2037281 6820422 7957390 9461363 9683601 9727749 10488817 10780784 |
| PCCB |
606054 |
Psychiatric-disorders |
|
psychiatric |
#10488817 #10780784 |
| PCCB |
606054 |
Behavioral-symptoms |
|
psychiatric |
#10488817 |
| PCCB |
606054 |
Self-injurious-behavior |
self mutilation; self mutilation of lower lip; lip tissue loss
|
psychiatric |
10488817 |
| PCCB |
606054 |
Mental-disorders |
|
psychiatric |
#10780784 |
| PCCB |
606054 |
Autistic-disorder |
|
psychiatric |
10780784 |
| PCCB |
606054 |
Body-temperature-changes |
|
miscellaneous |
#7957390 #9461363 #10488817 #10780784 |
| PCCB |
606054 |
Fever |
febrile illness
|
miscellaneous |
9461363 10488817 10780784 |
| PCCB |
606054 |
Hypothermia |
|
miscellaneous |
7957390 10780784 |
| PCCB |
606054 |
Growth-disorders |
|
miscellaneous |
#6820422 #9683601 #12409268 |
| PCCB |
606054 |
Failure-to-thrive |
weight loss; appetite decreased
|
miscellaneous |
6820422 9683601 12409268 |
| PCCB |
606054 |
Growth-deficiency |
poor physical growth
|
miscellaneous |
6820422 9683601 |
| PCCB |
606054 |
Dysmorphism-and-abnormalities |
plagiocephaly; overfolding of the superior helix of both ears; overfolded ears
|
miscellaneous |
10488817 |
| PCCB |
606054 |
PCC-deficiency |
lympocytes; fibroblasts
|
miscellaneous |
6820422 7957390 9461363 9683601 10502773 10780784 10820128 15464417 15614906 16324621 |
| PCCB |
606054 |
Carnitine-responsive |
hyperammonemia resolved; treatment with carnitine; treatment with low protein
|
miscellaneous |
10488817 |
