Branched-chain keto acid dehydrogenase kinase deficiency
- Synonyms
- BCKDK DEFICIENCY
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (20 available)
Clinical features
Help- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Abnormal nasal bridge morphology
Abnormal nasal bridge morphology
- MedGen UID: 867431
- Concept ID: C4021805
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Hypoplastic philtrum
Hypoplastic philtrum
- MedGen UID: 341641
- Concept ID: C1856886
- Finding: Finding
Abnormality of head or neck
- Small forehead
Small forehead
- MedGen UID: 336888
- Concept ID: C1845250
- Finding: Finding
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- Finding: Finding
Abnormality of head or neck
- Abnormal facial shape
- Abnormality of metabolism/homeostasis
- Hypoisoleucinemia
Hypoisoleucinemia
- MedGen UID: 1671097
- Concept ID: C4732899
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoleucinemia
Hypoleucinemia
- MedGen UID: 1671082
- Concept ID: C4732898
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypovalinemia
Hypovalinemia
- MedGen UID: 1671010
- Concept ID: C4732889
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoisoleucinemia
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hydronephrosis
- Abnormality of the immune system
- Inflammatory abnormality of the skin
Inflammatory abnormality of the skin
- MedGen UID: 849741
- Concept ID: C3875321
- Finding: Disease or Syndrome
Abnormality of the immune system
- Inflammatory abnormality of the skin
- Abnormality of the integument
- Coarse hair
Coarse hair
- MedGen UID: 124454
- Concept ID: C0277959
- Finding: Finding
Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Coarse hair
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive microcephaly
Progressive microcephaly
- MedGen UID: 340542
- Concept ID: C1850456
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Secondary microcephaly
Secondary microcephaly
- MedGen UID: 608952
- Concept ID: C0431352
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Clumsiness
Clumsiness
- MedGen UID: 66690
- Concept ID: C0233844
- Finding: Sign or Symptom
Abnormality of the nervous system
- Decreased CSF isoleucine concentration
Decreased CSF isoleucine concentration
- MedGen UID: 1688535
- Concept ID: C5139579
- Finding: Finding
Abnormality of the nervous system
- Decreased CSF leucine concentration
Decreased CSF leucine concentration
- MedGen UID: 1698637
- Concept ID: C5139575
- Finding: Finding
Abnormality of the nervous system
- Decreased CSF valine concentration
Decreased CSF valine concentration
- MedGen UID: 1687649
- Concept ID: C5139573
- Finding: Finding
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Focal-onset seizure
Focal-onset seizure
- MedGen UID: 199670
- Concept ID: C0751495
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized myoclonic seizure
Generalized myoclonic seizure
- MedGen UID: 892704
- Concept ID: C4021759
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized-onset seizure
Generalized-onset seizure
- MedGen UID: 115963
- Concept ID: C0234533
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyperactivity
Hyperactivity
- MedGen UID: 98406
- Concept ID: C0424295
- Finding: Finding
Abnormality of the nervous system
- Hyperkinetic movements
Hyperkinetic movements
- MedGen UID: 854367
- Concept ID: C3887506
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Interictal epileptiform activity
Interictal epileptiform activity
- MedGen UID: 869073
- Concept ID: C4023491
- Finding: Finding
Abnormality of the nervous system
- Language disorder
Language disorder
- MedGen UID: 44069
- Concept ID: C0023015
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Polyneuropathy
Polyneuropathy
- MedGen UID: 57502
- Concept ID: C0152025
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Restlessness
Restlessness
- MedGen UID: 854457
- Concept ID: C3887611
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Simple febrile seizure
Simple febrile seizure
- MedGen UID: 101773
- Concept ID: C0149886
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Typical absence seizure
Typical absence seizure
- MedGen UID: 1790454
- Concept ID: C5551411
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Aggressive behavior
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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