MCID: PYR025
MIFTS: 21

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 53 55 71 36 28 13 69
Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex 53 71
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 55
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 55
Pyruvate Dehydrogenase Complex Component E2 Deficiency 55
Pdhe2 Deficiency 71
Pdhdd 53

Characteristics:

Orphanet epidemiological data:

55
pyruvate dehydrogenase e2 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
very rare


HPO:

31
pyruvate dehydrogenase e2 deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 245348
Orphanet 55 ORPHA79244
UMLS via Orphanet 70 C1855565
ICD10 via Orphanet 33 E74.4
MedGen 39 C1855565
KEGG 36 H01999
UMLS 69 C1855565

Summaries for Pyruvate Dehydrogenase E2 Deficiency

UniProtKB/Swiss-Prot : 71 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, is also known as lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex, and has symptoms including ataxia, ptosis and nystagmus. 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.

Description from OMIM: 245348

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

Symptoms & Phenotypes for Pyruvate Dehydrogenase E2 Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
hyperreflexia
drooling
poor speech
jerky head movements
more
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

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

Metabolic Features:
lactic acidosis, may be mild


Clinical features from OMIM:

245348

Human phenotypes related to Pyruvate Dehydrogenase E2 Deficiency:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 ptosis 31 HP:0000508
3 nystagmus 31 HP:0000639
4 hyperreflexia 31 HP:0001347
5 global developmental delay 31 HP:0001263
6 microcephaly 31 HP:0000252
7 neonatal hypotonia 31 HP:0001319
8 intellectual disability, mild 31 HP:0001256
9 lactic acidosis 31 HP:0003128
10 choreoathetosis 31 HP:0001266
11 delayed gross motor development 31 HP:0002194
12 oculomotor apraxia 31 HP:0000657
13 drooling 31 HP:0002307
14 poor speech 31 HP:0002465
15 jerky head movements 31 HP:0006961
16 very rare 31 HP:0040284
17 paroxysmal dystonia 31 HP:0002268
18 decreased activity of the pyruvate dehydrogenase complex 31 HP:0002928

UMLS symptoms related to Pyruvate Dehydrogenase E2 Deficiency:


dystonia, paroxysmal, ataxia

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 28 DLAT

Anatomical Context for Pyruvate Dehydrogenase E2 Deficiency

MalaCards organs/tissues related to Pyruvate Dehydrogenase E2 Deficiency:

38
Globus Pallidus

Publications for Pyruvate Dehydrogenase E2 Deficiency

Variations for Pyruvate Dehydrogenase E2 Deficiency

ClinVar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:

6
# 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.848_849delAT (p.Asp283Glyfs) deletion Likely pathogenic rs782704553 GRCh37 Chromosome 11, 111908057: 111908058

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:

36
# 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
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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