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 54 24 56 71 29 13 69
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 56
Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex 71
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 56
Pyruvate Dehydrogenase Complex Component E2 Deficiency 56
Dihydrolipoamide Acetyltransferase Deficiency 24
Pdhe2 Deficiency 71

Characteristics:

Orphanet epidemiological data:

56
pyruvate dehydrogenase e2 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

54
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:



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 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, and has symptoms including nystagmus, ataxia and hyperreflexia. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase). 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:

54

Head And Neck- Eyes:
nystagmus
ptosis
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
psychomotor retardation
poor speech
hypotonia, neonatal
more
Metabolic Features:
lactic acidosis, may be mild


Clinical features from OMIM:

245348

Human phenotypes related to Pyruvate Dehydrogenase E2 Deficiency:

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

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:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E2 Deficiency 29 24 DLAT

Anatomical Context for Pyruvate Dehydrogenase E2 Deficiency

MalaCards organs/tissues related to Pyruvate Dehydrogenase E2 Deficiency:

39
Globus Pallidus

Publications for Pyruvate Dehydrogenase E2 Deficiency

Variations for Pyruvate Dehydrogenase E2 Deficiency

ClinVar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:

6
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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