PDHC
MCID: PYR002
MIFTS: 48

Pyruvate Decarboxylase Deficiency (PDHC) malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Pyruvate Decarboxylase Deficiency

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NIH Rare Diseases:42 Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. the most common form of pyruvate dehydrogenase deficiency is caused by mutations in the e1 alpha gene, and is inherited in an x-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. in addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy. last updated: 1/4/2011

MalaCards based summary: Pyruvate Decarboxylase Deficiency, also known as pyruvate dehydrogenase complex deficiency, is related to lactic acidosis and leigh disease. An important gene associated with Pyruvate Decarboxylase Deficiency is PDHB (pyruvate dehydrogenase (lipoamide) beta), and among its related pathways are Defective BTD causes biotidinase deficiency and HIF-1 signaling pathway. The compounds 2-(a-Hydroxyethyl)thiamine diphosphate and S-Acetyldihydrolipoamide have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex.

Genetics Home Reference:21 Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.

Description from OMIM:46 312170

Aliases & Classifications for Pyruvate Decarboxylase Deficiency

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Pyruvate Decarboxylase Deficiency, Aliases & Descriptions:

Name: Pyruvate Decarboxylase Deficiency 8 42 10
Pyruvate Dehydrogenase Complex Deficiency 42 20 22 21
Pyruvate Dehydrogenase Deficiency 8 42 21
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 21 62
Pyruvate Dehydrogenase Complex Deficiency Disease 8 62
Deficiency of Pyruvic Dehydrogenase 8 62
 
Ataxia with Lactic Acidosis 21 62
Pdhc Deficiency 21 62
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 42
Ataxia with Lactic Acidosis 1 42
Pdh Deficiency 21
Pdhc 42


Classifications:



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Disease Ontology8 DOID:3649
OMIM46 312170
MeSH34 D015325

Related Diseases for Pyruvate Decarboxylase Deficiency

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Graphical network of diseases related to Pyruvate Decarboxylase Deficiency:



Diseases related to pyruvate decarboxylase deficiency

Symptoms for Pyruvate Decarboxylase Deficiency

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Clinical features from OMIM:

312170

Drugs & Therapeutics for Pyruvate Decarboxylase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Pyruvate Decarboxylase Deficiency

Search NIH Clinical Center for Pyruvate Decarboxylase Deficiency

Genetic Tests for Pyruvate Decarboxylase Deficiency

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Genetic tests related to Pyruvate Decarboxylase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Complex Deficiency20 22

Anatomical Context for Pyruvate Decarboxylase Deficiency

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MalaCards organs/tissues related to Pyruvate Decarboxylase Deficiency:

32
Eye, Brain, Cortex, Liver

Animal Models for Pyruvate Decarboxylase Deficiency or affiliated genes

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Publications for Pyruvate Decarboxylase Deficiency

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Articles related to Pyruvate Decarboxylase Deficiency:

(show all 13)
idTitleAuthorsYear
1
Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate. (8355121)
1993
2
Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate. (4050860)
1985
3
Episodic weakness in pyruvate decarboxylase deficiency. (6502351)
1984
4
The effect of a high fat diet on pyruvate decarboxylase deficiency without central nervous system involvement. (6416099)
1983
5
Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency. (7099758)
1982
6
Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy. (7123539)
1982
7
Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy. (7247788)
1981
8
Urinary organic acids in a case of congenital lactic acidosis due to pyruvate decarboxylase deficiency. (117229)
1978
9
Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency. (19171)
1977
10
Citrate treatment in a patient with pyruvate decarboxylase deficiency. (982428)
1976
11
Letter: Pyruvate decarboxylase deficiency in liver. (4810126)
1974
12
Intermittent ataxia with pyruvate-decarboxylase deficiency. (4104759)
1971
13
Clinical studies of a patient with pyruvate decarboxylase deficiency. (5110887)
1971

Variations for Pyruvate Decarboxylase Deficiency

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Expression for genes affiliated with Pyruvate Decarboxylase Deficiency

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Expression patterns in normal tissues for genes affiliated with Pyruvate Decarboxylase Deficiency

Search GEO for disease gene expression data for Pyruvate Decarboxylase Deficiency.

Pathways for genes affiliated with Pyruvate Decarboxylase Deficiency

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Pathways related to Pyruvate Decarboxylase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.0PC, SLC2A1
28.8PDHA1, SLC2A1, PDHB
3
Show member pathways
8.7DLAT, PDHB, PDHA1, PDHX
4
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.6PC, DLAT, PDHB, PDHA1
5
Show member pathways
methylglyoxal degradation VI37
methylglyoxal degradation I37
8.6PDHA1, PC, PDHB, DLAT
6
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
8.2PDHA1, PC, PDHB, SLC2A1
7
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
8.1DLAT, PDHB, PDHA1, PDHX, PC
8
Show member pathways
7.3PC, SLC2A1, DLAT, PDHB, PDHA1, PDHX

Compounds for genes affiliated with Pyruvate Decarboxylase Deficiency

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Pyruvate Decarboxylase Deficiency according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
12-(a-Hydroxyethyl)thiamine diphosphate2410.0PDHA1, PDHB
2S-Acetyldihydrolipoamide2410.0DLAT, PDHA1
3thiamine pyrophosphate44 2410.9PDHA1, PDHB
42-Ketobutyric acid249.9PDHA1, PDHB
52-oxo acid449.8DLAT, PDHX
6Lipoic acid24 1110.8PDHX, DLAT
7dihydrolipoamide44 2410.8DLAT, PDHX
8dichloroacetate449.7PDHA1, PC
9S-Acetyldihydrolipoamide-E249.6PDHA1, DLAT, PDHB
10Alpha-ketoisovaleric acid249.6DLAT, PDHA1, PDHB
11Coenzyme A24 1110.6PDHB, PDHA1, DLAT
12carbon dioxide44 2410.5PDHA1, DLAT, PDHB
13nad28 2410.5PDHA1, PDHB, DLAT
14carnitine449.4PDHA1, PC
15alpha-ketoglutarate449.3PC, PDHX, DLAT
16citrate449.1PC, PDHA1
17fructose44 1110.1SLC2A1, PC
18Pyruvic acid24 1110.0PDHA1, PDHB, DLAT, PC
19adp44 28 2411.0DLAT, PC, PDHA1
20acetyl-coa44 2410.0DLAT, PDHB, PDHA1, PC
21nadh44 24 1111.0PC, PDHA1, PDHB, DLAT
22palmitate448.9SLC2A1, PC
23glycogen44 249.7PC, PDHA1, SLC2A1
24lactate448.7SLC2A1, PDHA1, PC
25alpha lipoic acid448.5SLC2A1, PDHX, DLAT, PC
26atp44 289.4PC, SLC2A1, PDHA1, DLAT
27glucose448.2SLC2A1, PDHA1, PC, PDHX
28pyruvate447.7PDHX, SLC2A1, DLAT, PC, PDHB, PDHA1

GO Terms for genes affiliated with Pyruvate Decarboxylase Deficiency

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Cellular components related to Pyruvate Decarboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase complexGO:0452549.6PDHB, PDHA1
2mitochondrial matrixGO:0057597.8DLAT, PDHB, PDHA1, PDHX, PC

Biological processes related to Pyruvate Decarboxylase Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA biosynthetic process from pyruvateGO:0060869.6PDHA1, PDHB
2tricarboxylic acid cycleGO:0060999.3PDHB, DLAT, PDHA1
3vitamin metabolic processGO:0067669.0PC, SLC2A1
4glucose metabolic processGO:0060069.0DLAT, PC, PDHB
5regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105108.9PDHA1, PDHX, DLAT, PDHB
6cellular metabolic processGO:0442378.9PDHX, PDHA1, DLAT, PDHB
7water-soluble vitamin metabolic processGO:0067678.7PC, SLC2A1
8pyruvate metabolic processGO:0060908.3PDHA1, PDHX, PDHB, DLAT, PC
9small molecule metabolic processGO:0442817.4SLC2A1, DLAT, PDHB, PC, PDHA1, PDHX

Molecular functions related to Pyruvate Decarboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase (acetyl-transferring) activityGO:0047399.6PDHB, PDHA1
2pyruvate dehydrogenase activityGO:0047389.3PDHB, PDHA1

Products for genes affiliated with Pyruvate Decarboxylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pyruvate Decarboxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet