MCID: PYR025
MIFTS: 23

Pyruvate Dehydrogenase E2 Deficiency

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

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

MalaCards integrated aliases for Pyruvate Dehydrogenase E2 Deficiency:

Name: Pyruvate Dehydrogenase E2 Deficiency 57 59 75 37 29 13 6 40 73
Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex 57 75
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 59
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 59
Pyruvate Dehydrogenase Complex Component E2 Deficiency 59
Pdhe2 Deficiency 75
Pdhdd 57

Characteristics:

Orphanet epidemiological data:

59
pyruvate dehydrogenase e2 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
very rare


HPO:

32
pyruvate dehydrogenase e2 deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 245348
Orphanet 59 ORPHA79244
ICD10 via Orphanet 34 E74.4
UMLS via Orphanet 74 C1855565
MedGen 42 C1855565
KEGG 37 H01999
UMLS 73 C1855565

Summaries for Pyruvate Dehydrogenase E2 Deficiency

UniProtKB/Swiss-Prot : 75 Pyruvate dehydrogenase E2 deficiency: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent.

MalaCards based summary : Pyruvate Dehydrogenase E2 Deficiency, also known as lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex, is related to dystonia, and has symptoms including ataxia and dystonia, paroxysmal. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism. Affiliated tissues include globus pallidus, and related phenotypes are microcephaly and ptosis

Description from OMIM: 245348

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

Diseases related to Pyruvate Dehydrogenase E2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 9.9

Symptoms & Phenotypes for Pyruvate Dehydrogenase E2 Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
oculomotor apraxia
saccade initiation failure

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
serum and csf lactate may be increased
decreased activity of the pyruvate dehydrogenase complex (pdh)
decreased activity of the e2 subunit (lipoyl transacetylase, ) of the pdh
decreased levels of the e2 subunit protein

Neurologic Central Nervous System:
ataxia
hyperreflexia
drooling
poor speech
jerky head movements
more
Metabolic Features:
lactic acidosis, may be mild


Clinical features from OMIM:

245348

Human phenotypes related to Pyruvate Dehydrogenase E2 Deficiency:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 ptosis 32 HP:0000508
3 nystagmus 32 HP:0000639
4 oculomotor apraxia 32 HP:0000657
5 ataxia 32 HP:0001251
6 intellectual disability, mild 32 HP:0001256
7 global developmental delay 32 HP:0001263
8 choreoathetosis 32 HP:0001266
9 neonatal hypotonia 32 HP:0001319
10 hyperreflexia 32 HP:0001347
11 delayed gross motor development 32 HP:0002194
12 paroxysmal dystonia 32 HP:0002268
13 drooling 32 HP:0002307
14 poor speech 32 HP:0002465
15 decreased activity of the pyruvate dehydrogenase complex 32 HP:0002928
16 lactic acidosis 32 HP:0003128
17 jerky head movements 32 HP:0006961

UMLS symptoms related to Pyruvate Dehydrogenase E2 Deficiency:


ataxia, dystonia, paroxysmal

Drugs & Therapeutics for Pyruvate Dehydrogenase E2 Deficiency

Search Clinical Trials , NIH Clinical Center for Pyruvate Dehydrogenase E2 Deficiency

Genetic Tests for Pyruvate Dehydrogenase E2 Deficiency

Genetic tests related to Pyruvate Dehydrogenase E2 Deficiency:

# Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E2 Deficiency 29 DLAT

Anatomical Context for Pyruvate Dehydrogenase E2 Deficiency

MalaCards organs/tissues related to Pyruvate Dehydrogenase E2 Deficiency:

41
Globus Pallidus

Publications for Pyruvate Dehydrogenase E2 Deficiency

Articles related to Pyruvate Dehydrogenase E2 Deficiency:

# Title Authors Year
1
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia. ( 20022530 )
2010

Variations for Pyruvate Dehydrogenase E2 Deficiency

ClinVar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 DLAT DLAT, 3-BP DEL, 361GAA deletion Pathogenic
2 DLAT NM_001931.4(DLAT): c.1728C> A (p.Phe576Leu) single nucleotide variant Pathogenic rs119103240 GRCh37 Chromosome 11, 111931812: 111931812
3 DLAT NM_001931.4(DLAT): c.1728C> A (p.Phe576Leu) single nucleotide variant Pathogenic rs119103240 GRCh38 Chromosome 11, 112061088: 112061088
4 DLAT NM_001931.4(DLAT): c.946C> T (p.Pro316Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149088081 GRCh37 Chromosome 11, 111908155: 111908155
5 DLAT NM_001931.4(DLAT): c.946C> T (p.Pro316Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149088081 GRCh38 Chromosome 11, 112037431: 112037431
6 DLAT NM_001931.4(DLAT): c.848_849delAT (p.Asp283Glyfs) deletion Likely pathogenic rs782704553 GRCh38 Chromosome 11, 112037333: 112037334
7 DLAT NM_001931.4(DLAT): c.848_849delAT (p.Asp283Glyfs) deletion Likely pathogenic rs782704553 GRCh37 Chromosome 11, 111908057: 111908058
8 DLAT NM_001931.4(DLAT): c.381+22delT deletion Benign/Likely benign rs113392665 GRCh38 Chromosome 11, 112026321: 112026321
9 DLAT NM_001931.4(DLAT): c.381+22delT deletion Benign/Likely benign rs113392665 GRCh37 Chromosome 11, 111897045: 111897045
10 DLAT NM_001931.4(DLAT): c.144G> A (p.Val48=) single nucleotide variant Likely benign rs367745211 GRCh38 Chromosome 11, 112025616: 112025616
11 DLAT NM_001931.4(DLAT): c.144G> A (p.Val48=) single nucleotide variant Likely benign rs367745211 GRCh37 Chromosome 11, 111896340: 111896340
12 DLAT NM_001931.4(DLAT): c.355A> G (p.Ile119Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 112026273: 112026273
13 DLAT NM_001931.4(DLAT): c.355A> G (p.Ile119Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111896997: 111896997

Expression for Pyruvate Dehydrogenase E2 Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase E2 Deficiency.

Pathways for Pyruvate Dehydrogenase E2 Deficiency

Pathways related to Pyruvate Dehydrogenase E2 Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Pyruvate metabolism hsa00620

GO Terms for Pyruvate Dehydrogenase E2 Deficiency

Sources for Pyruvate Dehydrogenase E2 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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