| GLUD1 |
606762 |
Digestive-system-diseases |
|
gastrointestinal |
#9108870 #11518822 #15517495 |
| GLUD1 |
606762 |
Pancreatic-diseases |
islet cell dysplasia; unusual islet cells arranged in ribbon patterns; nesidioblastosis; hypertrophic islet cells
|
gastrointestinal |
9108870 11518822 15517495 |
| GLUD1 |
606762 |
Feeding-difficulties |
poor feeding
|
gastrointestinal |
9108870 |
| GLUD1 |
606762 |
Respiratory-tract-diseases |
|
respiratory |
#8769351 |
| GLUD1 |
606762 |
Respiration-disorders |
apnoeas; apneic episodes; cyanosis
|
respiratory |
8769351 |
| GLUD1 |
606762 |
Nervous-system-diseases |
|
neurologic |
#8769351 #9108870 #9571255 #10636977 #10871207 #11214910 #11297618 #11518822 #16151898 |
| GLUD1 |
606762 |
Central-nervous-system-diseases |
|
neurologic |
#8769351 #9108870 #9571255 #10636977 #11214910 #11518822 #16151898 |
| GLUD1 |
606762 |
Brain-diseases |
|
neurologic |
#8769351 #9108870 #9571255 #10636977 #11214910 #11518822 #16151898 |
| GLUD1 |
606762 |
Seizures |
epilepsy; tonic clonic seizures; convulsions; hypoglycaemic seizures; afebrile seizures
|
neurologic |
8769351 9108870 9571255 10636977 11214910 11518822 16151898 |
| GLUD1 |
606762 |
Electroencephalogram-abnormal |
diffuse slowing rhythm; paroxysmal activity
|
neurologic |
8769351 |
| GLUD1 |
606762 |
Neurologic-manifestations |
|
neurologic |
#8769351 #9108870 #9571255 #10636977 #11214910 #11297618 #16151898 |
| GLUD1 |
606762 |
Neurobehavioral-manifestations |
|
neurologic |
#9108870 #9571255 #10636977 #11214910 #11297618 #16151898 |
| GLUD1 |
606762 |
Consciousness-disorders |
consciousness lowered; hypoglycemic
|
neurologic |
9108870 9571255 10636977 |
| GLUD1 |
606762 |
Mental-retardation |
borderline; low intelligence; mild
|
neurologic |
9108870 11214910 11297618 16151898 |
| GLUD1 |
606762 |
Developmental-delay |
mental development status delayed; psychomotor retardation
|
neurologic |
8769351 9108870 10871207 11297618 11518822 |
| GLUD1 |
606762 |
Psychomotor-agitation |
attention deficit; hyperactivity disorder; ADHD
|
neurologic |
9108870 |
| GLUD1 |
606762 |
Lethargy |
|
neurologic |
9108870 9571255 |
| GLUD1 |
606762 |
Neuromuscular-manifestations |
|
neurologic |
#8769351 #9108870 |
| GLUD1 |
606762 |
Muscle-hypotonia |
|
neurologic |
8769351 9108870 |
| GLUD1 |
606762 |
Metabolic-diseases |
|
metabolic |
#8769351 #9108870 #9571255 #10636977 #10871207 #11214910 #11297618 #11518822 #14967154 #15517495 #16151898 |
| GLUD1 |
606762 |
Acid-base-imbalance |
|
metabolic |
#9108870 #11297618 #15517495 |
| GLUD1 |
606762 |
Hypoketosis |
low ketone levels; ketone levels suppressed; serum; low ketone body concentrations
|
metabolic |
9108870 11297618 15517495 |
| GLUD1 |
606762 |
Glucose-metabolism-disorders |
|
metabolic |
#8769351 #9108870 #9571255 #10636977 #10871207 #11214910 #11297618 #11518822 #14967154 #15517495 #16151898 |
| GLUD1 |
606762 |
Hyperinsulinism |
elevated insulin; insulin levels abnormal; congenital hyperinsulinism; insulin insensitivity
|
metabolic |
8769351 9108870 9571255 10636977 10871207 11214910 11297618 11518822 14967154 15517495 16151898 |
| GLUD1 |
606762 |
Hypoglycemia |
attacks of symptomatic hypoglycemia; persistent hypoglycemia; leucine mediated; leucine sensitive; hypoglycemic episodes
|
metabolic |
8769351 9108870 9571255 10636977 10871207 11214910 11297618 11518822 14967154 15517495 16151898 |
| GLUD1 |
606762 |
Hyperammonemia |
ammonia levels elevated; plasma ammonium elevated
|
metabolic |
8769351 9108870 9571255 10636977 10871207 11214910 11297618 11518822 14967154 16151898 |
| GLUD1 |
606762 |
Aminoacid-levels-abnormal |
elevated glutamine; plasma glutamine elevated; valine decreased; leucine decreased; isoleucine decreased; alanine decreased
|
metabolic |
8769351 9108870 10636977 11518822 16151898 |
| GLUD1 |
606762 |
Fatty-acids-abnormal |
low free fatty acids; hypoglycemia related; suppressed concentrations of plasma free fatty acids
|
metabolic |
9108870 10871207 11297618 15517495 |
| GLUD1 |
606762 |
Organic-acids-abnormal |
alpha ketoglutarate aciduria; urinary ketoglutarate
|
metabolic |
11518822 14967154 |
| GLUD1 |
606762 |
TCA-intermediates-elevated |
alpha ketoglutarate aciduria; urinary ketoglutarate
|
metabolic |
11518822 14967154 |
| GLUD1 |
606762 |
Immune-system-diseases |
|
immunologic |
#16151898 |
| GLUD1 |
606762 |
Infections |
Epstein barr virus infection; haemophagocytic syndrome
|
immunologic |
16151898 |
| GLUD1 |
606762 |
Growth-disorders |
|
miscellaneous |
#9108870 #10636977 #16151898 |
| GLUD1 |
606762 |
Failure-to-thrive |
|
miscellaneous |
10636977 |
| GLUD1 |
606762 |
Growth-deficiency |
growth delayed; growth hormone deficiency
|
miscellaneous |
9108870 16151898 |
