| DLD |
248600 |
Musculoskeletal-diseases |
|
musculoskeletal |
#9540846 #9934985 #10448086 #12925875 |
| DLD |
248600 |
Muscular-diseases |
myopathy; variable
|
musculoskeletal |
#9934985 12925875 |
| DLD |
248600 |
Rhabdomyolysis |
marked rhabdomyolysis; episode
|
musculoskeletal |
9934985 |
| DLD |
248600 |
Myoglobinuria |
|
musculoskeletal |
9934985 |
| DLD |
248600 |
Craniofacial-abnormalities |
|
musculoskeletal |
#9540846 #10448086 #12925875 |
| DLD |
248600 |
Microcephaly |
microcephalic
|
musculoskeletal |
9540846 10448086 12925875 |
| DLD |
248600 |
Digestive-system-diseases |
|
gastrointestinal |
#6897145 #8652022 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 |
| DLD |
248600 |
Gastrointestinal-diseases |
|
gastrointestinal |
#12925875 |
| DLD |
248600 |
Gastroenteritis |
|
gastrointestinal |
12925875 |
| DLD |
248600 |
Liver-diseases |
liver dysfunction; hepatic failure; hepatopathy; inflammation; fibrosis; glycogen abnormal
|
gastrointestinal |
9298831 #9540846 9934985 12925875 14765544 |
| DLD |
248600 |
Hepatitis |
anicteric; variable
|
gastrointestinal |
12925875 |
| DLD |
248600 |
Liver-enzymes-abnormal |
liver transaminases abnormal; ALT elevated; biotinidase abnormal
|
gastrointestinal |
9934985 12925875 |
| DLD |
248600 |
Hepatomegaly |
recurrent; episodes
|
gastrointestinal |
9298831 9540846 9934985 14765544 |
| DLD |
248600 |
Abdominal-pain |
resurrent; episodes
|
gastrointestinal |
9934985 |
| DLD |
248600 |
Feeding-difficulties |
food rejection; poor feeding
|
gastrointestinal |
8652022 9540846 9934985 10448086 12925875 |
| DLD |
248600 |
Vomiting |
episodes; recurrent attacks; frequent
|
gastrointestinal |
6897145 9298831 9934985 11687750 12925875 14765544 |
| DLD |
248600 |
Respiratory-tract-diseases |
|
respiratory |
#413089 #3769994 #8652022 #9298831 #9540846 #10448086 #11687750 #12925875 |
| DLD |
248600 |
Respiration-disorders |
|
respiratory |
#413089 #3769994 #8652022 #9298831 #9540846 #10448086 #11687750 #12925875 |
| DLD |
248600 |
Hyperventilation |
tachypnea; hypocapnia; infection triggered
|
respiratory |
3769994 8652022 9298831 10448086 11687750 12925875 |
| DLD |
248600 |
Respiratory-insufficiency |
abnormal respiratory patterns; respiratory arrest; apnea; hypoventilation
|
respiratory |
413089 8652022 9540846 12925875 |
| DLD |
248600 |
Nervous-system-diseases |
|
neurologic |
#2909916 #3769994 #6897145 #8506365 #8652022 #8968745 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Central-nervous-system-diseases |
|
neurologic |
#2909916 #3769994 #8506365 #8652022 #9540846 #9934985 #11687750 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Brain-diseases |
|
neurologic |
#2909916 #8652022 #9540846 #9934985 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Encephalopathy |
encephalomyelopathy; subacute necrotizing encephalomyelopathy; Leigh like
|
neurologic |
2909916 8652022 9934985 12925875 14765544 |
| DLD |
248600 |
Seizures |
occasionally; infection triggered seizures
|
neurologic |
8652022 9540846 12925875 |
| DLD |
248600 |
Cerebral-atrophy |
cortical atrophy; variable
|
neurologic |
12925875 15712224 |
| DLD |
248600 |
Cerebral-necrosis |
lesions characterized by demyelination necrosis necrosis spongiosis capillary proliferation; Leigh like
|
neurologic |
12925875 |
| DLD |
248600 |
Movement-disorders |
|
neurologic |
#3769994 #8506365 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Choreatic-disorders |
choreoathetoid movements
|
neurologic |
15712224 |
| DLD |
248600 |
Dystonic-disorders |
dystonic movements; upper extremities
|
neurologic |
3769994 8506365 12925875 |
| DLD |
248600 |
Athetosis |
choreoathetoid movements
|
neurologic |
15712224 |
| DLD |
248600 |
Tremor |
intention tremor
|
neurologic |
14765544 |
| DLD |
248600 |
Spinal-cord-diseases |
encephalomyelopathy; myelopathy; Leigh like
|
neurologic |
2909916 8652022 12925875 |
| DLD |
248600 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; putamen abnormal; thalamus abnormal; pons abnormal; midbrain abnormal; basal ganglia abnormal; brain stem abnormal; Leigh like
|
neurologic |
3769994 8652022 11687750 12925875 |
| DLD |
248600 |
Neurologic-manifestations |
|
neurologic |
#3769994 #6897145 #8506365 #8652022 #8968745 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Ataxia |
mild; episodes; ataxic gait; motor incoordination
|
neurologic |
9934985 12925875 14765544 |
| DLD |
248600 |
Neurobehavioral-manifestations |
|
neurologic |
#3769994 #8652022 #9298831 #9540846 #9934985 #10448086 #12925875 #14765544 |
| DLD |
248600 |
Confusion |
disorientation
|
neurologic |
9934985 |
| DLD |
248600 |
Consciousness-disorders |
coma; somnolence; stupor
|
neurologic |
9540846 9934985 14765544 |
| DLD |
248600 |
Mental-retardation |
mild
|
neurologic |
12925875 |
| DLD |
248600 |
Developmental-delay |
psychomotor retardation; coordination abnormal; motor retardation
|
neurologic |
3769994 6897145 8506365 8968745 9540846 9934985 10448086 11687750 12925875 |
| DLD |
248600 |
Psychomotor-agitation |
ADHD; attention deficit; hyperactivity
|
neurologic |
9934985 |
| DLD |
248600 |
Lethargy |
apathy; infection triggered; apathetic
|
neurologic |
3769994 8652022 9298831 9934985 10448086 12925875 |
| DLD |
248600 |
Neuromuscular-manifestations |
|
neurologic |
#3769994 #6897145 #8506365 #8652022 #8968745 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Muscle-spasticity |
distal spasticity; progressive; tetraspasticity
|
neurologic |
3769994 8652022 12925875 |
| DLD |
248600 |
Muscle-hypotonia |
truncal hypotonia
|
neurologic |
3769994 6897145 8506365 8968745 9934985 10448086 11687750 12925875 15712224 |
| DLD |
248600 |
Muscle-weakness |
|
neurologic |
9934985 14765544 |
| DLD |
248600 |
Muscular-atrophy |
type 2 fiber hypotrophy; type 1 fiber predominance; supranuclear lesions related; muscle wasting
|
neurologic |
12925875 14765544 |
| DLD |
248600 |
Paralysis-Paresis |
tetraspasticity; tetraspastic paresis; quadriplegia
|
neurologic |
3769994 12925875 |
| DLD |
248600 |
Reflexes-abnormal |
|
neurologic |
#8652022 #10448086 #14765544 |
| DLD |
248600 |
Hyperreflexia |
brisk; deep tendon reflexes abnormal; progressive
|
neurologic |
8652022 10448086 |
| DLD |
248600 |
Pyramidal-tract-signs |
bilateral
|
neurologic |
14765544 |
| DLD |
248600 |
Hearing-disorders |
deafness; variable
|
neurologic |
10448086 12925875 |
| DLD |
248600 |
Stroke-like-episodes |
patient presented with a stroke like episode
|
neurologic |
12925875 |
| DLD |
248600 |
Eye-diseases |
|
ophthalmologic |
#413089 #3769994 #9540846 #9934985 #10448086 #12925875 |
| DLD |
248600 |
Ocular-motility-disorders |
|
ophthalmologic |
#3769994 #12925875 |
| DLD |
248600 |
Pathologic-nystagmus |
|
ophthalmologic |
3769994 12925875 |
| DLD |
248600 |
Optic-nerve-diseases |
optic neuropathy
|
ophthalmologic |
413089 9540846 |
| DLD |
248600 |
Vision-disorders |
impaired vision; suspected cortical damage; cortical blindness; blindness
|
ophthalmologic |
9934985 10448086 12925875 |
| DLD |
248600 |
Genitourinary-diseases |
|
genitourinary |
#12925875 |
| DLD |
248600 |
Urologic-diseases |
|
genitourinary |
#12925875 |
| DLD |
248600 |
Kidney-diseases |
|
genitourinary |
#12925875 |
| DLD |
248600 |
Renal-insufficiency |
proximal tubulopathy; De Toni Fanconi Debre syndrome; renal tubulopathy; variable
|
genitourinary |
12925875 |
| DLD |
248600 |
Cardiovascular-diseases |
|
cardiovascular |
#3769994 #8506365 #9540846 #10448086 #11687750 #12925875 #15712224 |
| DLD |
248600 |
Heart-diseases |
|
cardiovascular |
#10448086 #11687750 #12925875 #15712224 |
| DLD |
248600 |
Arrhythmia |
tachycardia
|
cardiovascular |
11687750 |
| DLD |
248600 |
Cardiomyopathy |
hypertrophic
|
cardiovascular |
10448086 12925875 15712224 |
| DLD |
248600 |
Cardiorespiratory-arrest |
high mortality; death; neonatal death
|
cardiovascular |
3769994 8506365 |
| DLD |
248600 |
Blood-circulation-disorder |
peripher perfusion abnormal; circulatory failure; metabolic decompensation is infection triggered
|
cardiovascular |
9540846 10448086 12925875 |
| DLD |
248600 |
Hematologic-diseases |
|
hematologic |
#9934985 |
| DLD |
248600 |
Blood-coagulation-disorders |
prothrombin time prolonged
|
hematologic |
9934985 |
| DLD |
248600 |
Skin-diseases |
|
dermatologic |
#3769994 #9934985 #10448086 #12925875 |
| DLD |
248600 |
Paleness |
pallor; infection triggered
|
dermatologic |
3769994 9934985 10448086 12925875 |
| DLD |
248600 |
Metabolic-diseases |
|
metabolic |
#413089 #3769994 #6418873 #6897145 #8506365 #8652022 #8968745 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Acid-base-imbalance |
|
metabolic |
#413089 #3769994 #6418873 #6897145 #8506365 #8968745 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224 |
| DLD |
248600 |
Acidosis |
lactic acidosis; ketoacidosis; metabolic acidosis; CSF lactate abnormal; lactic acidemia
|
metabolic |
413089 6418873 6897145 8506365 8968745 9298831 9540846 9934985 10448086 11687750 12925875 14765544 15712224 |
| DLD |
248600 |
Ketosis |
hyperketonemia; mild; moderate; ketoacidotic crisis
|
metabolic |
3769994 12925875 15712224 |
| DLD |
248600 |
Metabolic-brain-diseases |
|
metabolic |
#9934985 |
| DLD |
248600 |
Reye-like-symptoms |
reye syndrome like; recurrent
|
metabolic |
9934985 |
| DLD |
248600 |
Glucose-metabolism-disorders |
|
metabolic |
#413089 #8652022 #8968745 #9540846 #10448086 #12925875 #14765544 |
| DLD |
248600 |
Hypoglycemia |
recurrent; episodes
|
metabolic |
413089 8652022 8968745 9540846 10448086 12925875 14765544 |
| DLD |
248600 |
Hyperammonemia |
ammonia levels elevated; mild
|
metabolic |
9298831 |
| DLD |
248600 |
Aminoacid-levels-abnormal |
elevated alanine; elevated leucine; elevated isoleucine; elevated valine; elevated glycine; elevated threonine; elevated alloisoleucine; elevated methionine; branched chain amino acids abnormal
|
metabolic |
3769994 8506365 8652022 8968745 9540846 9934985 11687750 12925875 |
| DLD |
248600 |
Aminoaciduria |
generalized
|
metabolic |
9934985 10448086 12925875 |
| DLD |
248600 |
Organic-acids-abnormal |
2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methyvaleric aciduria; lactic aciduria; elevated tricarboxylic acid cycle intermediates
|
metabolic |
413089 3769994 6418873 6897145 8506365 8968745 9540846 9934985 10448086 11687750 12925875 14765544 15712224 |
| DLD |
248600 |
TCA-intermediates-elevated |
tricarboxylic acid cycle intermediates elevated; alpha ketoglutarate elevated; alpha ketoglutaric aciduria
|
metabolic |
413089 3769994 6897145 8968745 11687750 12925875 15712224 |
| DLD |
248600 |
Immune-system-diseases |
|
immunologic |
#3769994 #9298831 #9934985 #10448086 #12925875 |
| DLD |
248600 |
Infections |
recurrent; urinary tract infections; sepsis; flu like diseases
|
immunologic |
3769994 9298831 9934985 10448086 12925875 |
| DLD |
248600 |
Psychiatric-disorders |
|
psychiatric |
#9934985 |
| DLD |
248600 |
Mental-disorders |
|
psychiatric |
#9934985 |
| DLD |
248600 |
Schizophrenia-and-psychotic-disorders |
|
psychiatric |
#9934985 |
| DLD |
248600 |
Psychotic-disorders |
psychosis; transient psychosis
|
psychiatric |
9934985 |
| DLD |
248600 |
Body-temperature-changes |
|
miscellaneous |
#6418873 #9934985 #11687750 |
| DLD |
248600 |
Fever |
febrile illness; fever related onset of episodes
|
miscellaneous |
9934985 11687750 |
| DLD |
248600 |
Hypothermia |
neonatal hypothermia
|
miscellaneous |
6418873 |
| DLD |
248600 |
Exercise-intolerance |
fatigue; exertional fatigue; physical exercise intolerant
|
miscellaneous |
3769994 9934985 |
| DLD |
248600 |
Growth-disorders |
|
miscellaneous |
#3769994 #6418873 #8652022 #12925875 |
| DLD |
248600 |
Failure-to-thrive |
|
miscellaneous |
3769994 6418873 8652022 12925875 |
| DLD |
248600 |
Growth-deficiency |
|
miscellaneous |
12925875 |
| DLD |
248600 |
Odors |
maple syrup; burned sugar odor
|
miscellaneous |
6897145 |
| DLD |
248600 |
Creatine-kinase-abnormal |
during episodes
|
miscellaneous |
12925875 |
| DLD |
248600 |
AKDH-deficiency |
muscle; fibroblasts; liver; heart
|
miscellaneous |
413089 3769994 6897145 9540846 10448086 15712224 |
| DLD |
248600 |
BCKDH-deficiency |
fibroblasts; liver
|
miscellaneous |
3769994 6897145 8506365 15712224 |
| DLD |
248600 |
PDH-deficiency |
muscle; lymphocytes; fibroblasts; liver; heart; brain
|
miscellaneous |
413089 2909916 3769994 6897145 8968745 9298831 9540846 10448086 11687750 12925875 15712224 |
| DLD |
248600 |
Vitamin-responsive |
riboflavin; vitamin B2
|
miscellaneous |
14765544 |
