MCID: PYR012
MIFTS: 23

Pyruvate Dehydrogenase E1-Beta Deficiency

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

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

MalaCards integrated aliases for Pyruvate Dehydrogenase E1-Beta Deficiency:

Name: Pyruvate Dehydrogenase E1-Beta Deficiency 53 55 71 36 28 13 69
Pdhbd 53 55 71
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 55
Pyruvate Dehydrogenase Complex Deficiency Disease 69
Pyruvate Dehydrogenase Deficiency 71
Pdh Deficiency 71

Characteristics:

Orphanet epidemiological data:

55
pyruvate dehydrogenase e1-beta deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

HPO:

31
pyruvate dehydrogenase e1-beta deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614111
Orphanet 55 ORPHA255138
UMLS via Orphanet 70 C3279841
ICD10 via Orphanet 33 E74.4
MeSH 41 D015325
KEGG 36 H01998
SNOMED-CT via HPO 65 258211005 190882007 91273001
UMLS 69 C3279841

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

UniProtKB/Swiss-Prot : 71 Pyruvate dehydrogenase E1-beta deficiency: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.

MalaCards based summary : Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pdhbd, is related to pyruvate dehydrogenase e1-alpha deficiency and pyruvate dehydrogenase e2 deficiency, and has symptoms including lactic acidosis and generalized hypotonia. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase E1 Beta Subunit), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism.

Description from OMIM: 614111

Related Diseases for Pyruvate Dehydrogenase E1-Beta Deficiency

Diseases related to Pyruvate Dehydrogenase E1-Beta Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e1-alpha deficiency 11.8
2 pyruvate dehydrogenase e2 deficiency 11.2

Symptoms & Phenotypes for Pyruvate Dehydrogenase E1-Beta Deficiency

Clinical features from OMIM:

614111

Human phenotypes related to Pyruvate Dehydrogenase E1-Beta Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 lactic acidosis 31 HP:0003128
2 generalized hypotonia 31 HP:0001290

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

Search Clinical Trials , NIH Clinical Center for Pyruvate Dehydrogenase E1-Beta Deficiency

Genetic Tests for Pyruvate Dehydrogenase E1-Beta Deficiency

Genetic tests related to Pyruvate Dehydrogenase E1-Beta Deficiency:

# Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Beta Deficiency 28 PDHB

Anatomical Context for Pyruvate Dehydrogenase E1-Beta Deficiency

Publications for Pyruvate Dehydrogenase E1-Beta Deficiency

Articles related to Pyruvate Dehydrogenase E1-Beta Deficiency:

(show all 33)
# Title Authors Year
1
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency. ( 21895644 )
2012
2
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients. ( 22766002 )
2012
3
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene. ( 21470495 )
2011
4
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation. ( 18398624 )
2009
5
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency. ( 19517265 )
2009
6
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. ( 18504677 )
2008
7
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. ( 18164639 )
2008
8
A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate. ( 18206410 )
2008
9
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. ( 18197404 )
2008
10
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency. ( 18709504 )
2008
11
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency. ( 16843025 )
2006
12
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. ( 16049940 )
2005
13
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. ( 15138885 )
2004
14
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet. ( 15070761 )
2004
15
Pyruvate dehydrogenase deficiency presenting as dystonia in childhood. ( 15473177 )
2004
16
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. ( 12557299 )
2003
17
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene. ( 12208141 )
2002
18
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency. ( 10872106 )
2000
19
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency. ( 10449128 )
1999
20
Reduced Ca2+ uptake by mitochondria in pyruvate dehydrogenase-deficient human diploid fibroblasts. ( 9530092 )
1998
21
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation. ( 9818854 )
1998
22
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. ( 9266390 )
1997
23
Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency. ( 8962591 )
1996
24
[Pyruvate dehydrogenase deficiency and cerebral malformations]. ( 8983728 )
1996
25
Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells. ( 8598635 )
1995
26
Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. ( 8199595 )
1994
27
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. ( 8032855 )
1994
28
Pyruvate dehydrogenase deficiency. ( 7853374 )
1994
29
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. ( 7545958 )
1994
30
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. ( 8352855 )
1993
31
Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. ( 1338114 )
1992
32
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene. ( 1907799 )
1991
33
Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration. ( 6437168 )
1984

Variations for Pyruvate Dehydrogenase E1-Beta Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Beta Deficiency:

71
# Symbol AA change Variation ID SNP ID
1 PDHB p.Pro344Ser VAR_021058 rs28933391
2 PDHB p.Tyr132Cys VAR_030954 rs28935769

ClinVar genetic disease variations for Pyruvate Dehydrogenase E1-Beta Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDHB NM_000925.3(PDHB): c.395A> G (p.Tyr132Cys) single nucleotide variant Pathogenic rs28935769 GRCh37 Chromosome 3, 58416578: 58416578
2 PDHB NM_000925.3(PDHB): c.1030C> T (p.Pro344Ser) single nucleotide variant Pathogenic rs28933391 GRCh37 Chromosome 3, 58413811: 58413811

Expression for Pyruvate Dehydrogenase E1-Beta Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase E1-Beta Deficiency.

Pathways for Pyruvate Dehydrogenase E1-Beta Deficiency

Pathways related to Pyruvate Dehydrogenase E1-Beta Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Pyruvate metabolism hsa00620

GO Terms for Pyruvate Dehydrogenase E1-Beta Deficiency

Sources for Pyruvate Dehydrogenase E1-Beta Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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