BCKDKD
MCID: BRN135
MIFTS: 30

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency (BCKDKD)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

MalaCards integrated aliases for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

Name: Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 57 12 29 6 15
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency 57 74 37 13 40 72
Bckdkd 57 12 74
Autism-Epilepsy Syndrome Due to Branched Chain Ketoacid Dehydrogenase Kinase Deficiency 12 59
Bckdk Deficiency 57 12
Brain Diseases, Metabolic, Inborn 44

Characteristics:

Orphanet epidemiological data:

59
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Disease Ontology 12 DOID:0090126
OMIM 57 614923
KEGG 37 H02136
ICD10 33 E71.1
ICD10 via Orphanet 34 E71.1
Orphanet 59 ORPHA308410
UMLS 72 C3554078

Summaries for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Disease Ontology : 12 An autosomal recessive disease that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has material basis in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.

MalaCards based summary : Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, also known as branched-chain ketoacid dehydrogenase kinase deficiency, is related to autism and maple syrup urine disease. An important gene associated with Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency is BCKDK (Branched Chain Keto Acid Dehydrogenase Kinase). The drugs carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

KEGG : 37
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low plasma levels of branched-chain amino acids.

UniProtKB/Swiss-Prot : 74 Branched-chain ketoacid dehydrogenase kinase deficiency: A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids.

More information from OMIM: 614923

Related Diseases for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Diseases related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 autism 10.2
2 maple syrup urine disease 10.2
3 mitochondrial metabolism disease 10.2

Symptoms & Phenotypes for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Human phenotypes related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

32 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 obligate (100%) HP:0001249
2 seizures 32 obligate (100%) HP:0001250
3 autism 32 obligate (100%) HP:0000717
4 abnormal circulating branched chain amino acid concentration 32 obligate (100%) HP:0010892

Clinical features from OMIM:

614923

MGI Mouse Phenotypes related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 BCKDK MFN2

Drugs & Therapeutics for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Drugs for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 3, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
3
Creatine Approved, Investigational, Nutraceutical 57-00-1 586

Interventional clinical trials:

(showing 5, show less)
# Name Status NCT ID Phase Drugs
1 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
2 Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy Completed NCT00472732
3 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
4 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Recruiting NCT03233841
5 Observational Study of Males With Creatine Transporter Deficiency Recruiting NCT02931682

Search NIH Clinical Center for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Cochrane evidence based reviews: brain diseases, metabolic, inborn

Genetic Tests for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Genetic tests related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

# Genetic test Affiliating Genes
1 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 29 BCKDK

Anatomical Context for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

MalaCards organs/tissues related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

41
Brain

Publications for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Articles related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

(showing 3, show less)
# Title Authors PMID Year
1
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. 8 71
22956686 2012
2
Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice. 8
16875466 2006
3
Autism spectrum disorders and inborn errors of metabolism: an update. 38
23921282 2013

Variations for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

ClinVar genetic disease variations for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

6 (showing 11, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BCKDK NM_005881.4(BCKDK): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs397514573 16:31121568-31121568 16:31110247-31110247
2 BCKDK NM_005881.3c.222delG deletion Pathogenic
3 BCKDK NM_005881.4(BCKDK): c.671G> C (p.Arg224Pro) single nucleotide variant Pathogenic rs147210405 16:31122037-31122037 16:31110716-31110716
4 BCKDK NM_005881.4(BCKDK): c.453C> G (p.Tyr151Ter) single nucleotide variant Likely pathogenic rs369521689 16:31121555-31121555 16:31110234-31110234
5 BCKDK NM_005881.4(BCKDK): c.847G> A (p.Ala283Thr) single nucleotide variant Uncertain significance rs760851100 16:31122622-31122622 16:31111301-31111301
6 BCKDK NM_005881.4(BCKDK): c.904A> G (p.Ile302Val) single nucleotide variant Uncertain significance rs201164597 16:31122679-31122679 16:31111358-31111358
7 BCKDK NM_005881.4(BCKDK): c.373G> A (p.Val125Met) single nucleotide variant Uncertain significance rs141282419 16:31121102-31121102 16:31109781-31109781
8 BCKDK NM_005881.4(BCKDK): c.1066A> T (p.Ser356Cys) single nucleotide variant Uncertain significance rs142542453 16:31123320-31123320 16:31111999-31111999
9 subset of 40 genes:SETD1A ; SRCAP deletion Uncertain significance 16:30554158-31536880 :0-0
10 BCKDK NM_005881.4(BCKDK): c.193A> G (p.Lys65Glu) single nucleotide variant Uncertain significance 16:31120737-31120737 16:31109416-31109416
11 BCKDK NM_005881.4(BCKDK): c.196-8del deletion Uncertain significance

UniProtKB/Swiss-Prot genetic disease variations for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

74 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 BCKDK p.Arg224Pro VAR_069037 rs147210405
2 BCKDK p.Arg174Gly VAR_072184
3 BCKDK p.Leu389Pro VAR_072185

Expression for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Search GEO for disease gene expression data for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency.

Pathways for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

GO Terms for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Cellular components related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 MFN2 BCKDK

Sources for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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