| BCKDHA |
248600 |
Musculoskeletal-diseases |
|
musculoskeletal |
#7883996 #12042535 #16601891 |
| BCKDHA |
248600 |
Muscular-diseases |
Biopsy finding; non specific abnormalities; myofibre atrophy; fibres with increased lipid; muscular atrophy
|
musculoskeletal |
16601891 |
| BCKDHA |
248600 |
Craniofacial-abnormalities |
|
musculoskeletal |
#7883996 #12042535 #16601891 |
| BCKDHA |
248600 |
Microcephaly |
poor head growth
|
musculoskeletal |
7883996 12042535 16601891 |
| BCKDHA |
248600 |
Digestive-system-diseases |
|
gastrointestinal |
#7883996 #8779622 #12042535 #14567968 #14742428 #16601891 |
| BCKDHA |
248600 |
Gastrointestinal-diseases |
|
gastrointestinal |
#12042535 |
| BCKDHA |
248600 |
Gastroenteritis |
metabolic decompensation triggered by gastroenteritis
|
gastrointestinal |
12042535 |
| BCKDHA |
248600 |
Pancreatic-diseases |
|
gastrointestinal |
#12042535 |
| BCKDHA |
248600 |
Pancreatitis |
occasionally; acute pancreatitis
|
gastrointestinal |
12042535 |
| BCKDHA |
248600 |
Abdominal-pain |
epigastric pain
|
gastrointestinal |
12042535 |
| BCKDHA |
248600 |
Feeding-difficulties |
gagging and coughing with feeds; gastrostomy tube feeding; poor feeding; difficult to feed
|
gastrointestinal |
7883996 8779622 12042535 14742428 16601891 |
| BCKDHA |
248600 |
Vomiting |
|
gastrointestinal |
12042535 14567968 |
| BCKDHA |
248600 |
Respiratory-tract-diseases |
|
respiratory |
#7883996 #12042535 |
| BCKDHA |
248600 |
Lung-diseases |
|
respiratory |
#7883996 |
| BCKDHA |
248600 |
Pneumonia |
recurrent pneumonias
|
respiratory |
7883996 |
| BCKDHA |
248600 |
Respiration-disorders |
apnea; respiratory failure
|
respiratory |
12042535 |
| BCKDHA |
248600 |
Nervous-system-diseases |
|
neurologic |
#1885764 #2060625 #2703538 #7672509 #7883996 #8161368 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891 #16786533 |
| BCKDHA |
248600 |
Central-nervous-system-diseases |
|
neurologic |
#1885764 #7672509 #7883996 #8161368 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891 |
| BCKDHA |
248600 |
Brain-diseases |
|
neurologic |
#1885764 #7672509 #7883996 #8161368 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891 |
| BCKDHA |
248600 |
Brain-edema |
cerebral edema; grey matter edema
|
neurologic |
12042535 14567968 16601891 |
| BCKDHA |
248600 |
Encephalopathy |
brain dysfunction; encephalopatic; full fontanels
|
neurologic |
12042535 12118532 14517957 |
| BCKDHA |
248600 |
Seizures |
opisthotonos; tonic clonic seizures
|
neurologic |
1885764 7672509 7883996 8161368 12042535 14567968 14742428 |
| BCKDHA |
248600 |
Cerebellar-atrophy |
MRI findings; cerebellar volume loss
|
neurologic |
16601891 |
| BCKDHA |
248600 |
Electroencephalogram-abnormal |
disorganized patter; paroxysmal spikes
|
neurologic |
7883996 |
| BCKDHA |
248600 |
Movement-disorders |
hyperkinesis
|
neurologic |
7883996 #12042535 |
| BCKDHA |
248600 |
Choreatic-disorders |
choreoathetosis
|
neurologic |
12042535 |
| BCKDHA |
248600 |
Dystonic-disorders |
dystonia; dystonic; dystonic posturing; dystonic rigidity
|
neurologic |
12042535 |
| BCKDHA |
248600 |
Athetosis |
choreoathetosis; athetoid movements
|
neurologic |
12042535 |
| BCKDHA |
248600 |
Spinal-cord-diseases |
corticospinal tract dysfunction
|
neurologic |
12042535 |
| BCKDHA |
248600 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; bilateral symmetric; globus pallidus abnormal; pons abnormal; midbrain abnormal; myelin maturation delayed
|
neurologic |
12042535 16601891 |
| BCKDHA |
248600 |
Neurologic-manifestations |
|
neurologic |
#1885764 #2060625 #2703538 #7672509 #7883996 #8161368 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891 |
| BCKDHA |
248600 |
Ataxia |
acute; transient
|
neurologic |
7883996 12042535 14567968 |
| BCKDHA |
248600 |
Gait-disorders |
broad based
|
neurologic |
7883996 |
| BCKDHA |
248600 |
Neurobehavioral-manifestations |
|
neurologic |
#1885764 #2060625 #2703538 #7672509 #7883996 #8161368 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891 |
| BCKDHA |
248600 |
Speech-disorders |
no speech
|
neurologic |
16601891 |
| BCKDHA |
248600 |
Consciousness-disorders |
coma; unconsciousness
|
neurologic |
1885764 7883996 12118532 14517957 14567968 14742428 |
| BCKDHA |
248600 |
Mental-retardation |
|
neurologic |
1885764 2060625 2703538 7672509 8161368 14567968 |
| BCKDHA |
248600 |
Perceptual-disorders |
|
neurologic |
#12042535 #14567968 |
| BCKDHA |
248600 |
Hallucinations |
|
neurologic |
12042535 14567968 |
| BCKDHA |
248600 |
Developmental-delay |
psychomotor retardation; inability to sit; inability to stand; inability to crawl; speech delay; language delay
|
neurologic |
7883996 12042535 16601891 16786533 |
| BCKDHA |
248600 |
Psychomotor-agitation |
hyperactivity; agitation; attention deficit disorder; correlated to plasma leucine level
|
neurologic |
12042535 |
| BCKDHA |
248600 |
Irritability |
excessive irritability; irritable
|
neurologic |
7883996 12042535 |
| BCKDHA |
248600 |
Lethargy |
lethargic
|
neurologic |
7883996 12042535 14567968 14742428 |
| BCKDHA |
248600 |
Neuromuscular-manifestations |
|
neurologic |
#7883996 #12042535 #16601891 |
| BCKDHA |
248600 |
Muscle-rigidity |
jaw rigidity; hypopharnyx rigidity
|
neurologic |
12042535 |
| BCKDHA |
248600 |
Muscle-hypotonia |
profound hypotonia; myopathic facies
|
neurologic |
7883996 16601891 |
| BCKDHA |
248600 |
Reflexes-abnormal |
|
neurologic |
#7883996 #12042535 |
| BCKDHA |
248600 |
Hyperreflexia |
brisk reflexes; lower extremities
|
neurologic |
7883996 12042535 |
| BCKDHA |
248600 |
Pyramidal-tract-signs |
extensor plantar response; babinski sign
|
neurologic |
12042535 |
| BCKDHA |
248600 |
Cardiovascular-diseases |
|
cardiovascular |
#1885764 #2060625 #7672509 #7883996 #10694918 #14742428 #16786533 |
| BCKDHA |
248600 |
Cardiorespiratory-arrest |
high mortality; death; died in infancy
|
cardiovascular |
1885764 2060625 7672509 7883996 10694918 14742428 16786533 |
| BCKDHA |
248600 |
Metabolic-diseases |
|
metabolic |
#1885764 #2060625 #2703538 #7707687 #7883996 #8161368 #10694918 #11825067 #12042535 #12118532 #14517957 #14567968 #14742428 #16601891 #16786533 |
| BCKDHA |
248600 |
Acid-base-imbalance |
|
metabolic |
#1885764 #2060625 #2703538 #8161368 #12042535 #14567968 |
| BCKDHA |
248600 |
Ketosis |
ketoacidosis; ketonuria; urinary ketones
|
metabolic |
1885764 2060625 2703538 8161368 12042535 14567968 |
| BCKDHA |
248600 |
Hyperammonemia |
|
metabolic |
16601891 |
| BCKDHA |
248600 |
Aminoacid-levels-abnormal |
elevated leucine; elevated isoleucine; elevated valine; elevated alloisoleucine; leucinosis; leucine alanine ratio abnormal
|
metabolic |
7707687 7883996 8161368 10694918 11825067 12042535 12118532 14517957 14567968 14742428 16601891 16786533 |
| BCKDHA |
248600 |
Water-electrolyte-imbalance |
|
metabolic |
#12042535 |
| BCKDHA |
248600 |
Hyponatremia |
serum sodium decreased
|
metabolic |
12042535 |
| BCKDHA |
248600 |
Salt-wasting |
urinary sodium losses; renal salt wasting
|
metabolic |
12042535 |
| BCKDHA |
248600 |
Organic-acids-abnormal |
2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methylvaleric aciduria; branched chain ketoaciduria; 2 oxo aciduria; positive urinary DNPH reaction
|
metabolic |
7707687 12118532 14567968 14742428 16601891 |
| BCKDHA |
248600 |
Immune-system-diseases |
|
immunologic |
#7883996 #12042535 #12118532 #14567968 #16601891 |
| BCKDHA |
248600 |
Infections |
otitis media; respiratory tract infections; intercurrent infections; infection triggered episodes; sepsis; candidasis
|
immunologic |
7883996 12042535 12118532 14567968 16601891 |
| BCKDHA |
248600 |
Body-temperature-changes |
|
miscellaneous |
#7883996 |
| BCKDHA |
248600 |
Fever |
|
miscellaneous |
7883996 |
| BCKDHA |
248600 |
Growth-disorders |
|
miscellaneous |
#7883996 #8779622 #12042535 #16601891 |
| BCKDHA |
248600 |
Failure-to-thrive |
|
miscellaneous |
8779622 |
| BCKDHA |
248600 |
Growth-deficiency |
poor growth
|
miscellaneous |
7883996 12042535 16601891 |
| BCKDHA |
248600 |
Odors |
maple syrup odor; burned sugar odor; maple syrup in cerumen
|
miscellaneous |
7672509 8161368 12042535 |
| BCKDHA |
248600 |
BCKDH-deficiency |
fibroblasts; residual enzyme activity
|
miscellaneous |
1885764 2060625 2703538 7707687 7883996 8161368 10694918 11825067 12042535 14517957 14567968 14742428 16601891 16786533 |
| BCKDHA |
248600 |
RCCI-deficiency |
muscle; fibroblasts
|
miscellaneous |
16601891 |
| BCKDHA |
248600 |
RCCIV-deficiency |
muscle; fibroblasts
|
miscellaneous |
16601891 |
