PDHC
MCID: PYR002
MIFTS: 44

Pyruvate Decarboxylase Deficiency (PDHC) malady

Summaries for Pyruvate Decarboxylase Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: 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 PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1), and among its related pathways are Ketone body metabolism and Glucose / Energy Metabolism. The compounds chloramphenicol and lipoamide 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 people 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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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 21Genetics Home Reference, 20GeneTests, 22GTR, 56SNOMED-CT, 34MeSH, 46OMIM
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Aliases & Descriptions:

pyruvate decarboxylase deficiency 8 42 10
pyruvate dehydrogenase complex deficiency 42 20 22 21
pyruvate dehydrogenase deficiency 8 42 21
pyruvate dehydrogenase complex deficiency disease 8 60
ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency 42
intermittent ataxia with pyruvate dehydrogenase deficiency 21
deficiency of pyruvic dehydrogenase 8
ataxia with lactic acidosis 1 42
ataxia with lactic acidosis 21
pdhc deficiency 21
pdh deficiency 21
pdhc 42


External Ids:

Disease Ontology8 DOID:3649
MeSH34 D015325
OMIM46 312170

Related Diseases for Pyruvate Decarboxylase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pyruvate Decarboxylase Deficiency:



Diseases related to pyruvate decarboxylase deficiency

Clinical Features for Pyruvate Decarboxylase Deficiency

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46OMIM
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Clinical features from OMIM:

312170

Drugs & Therapeutics for Pyruvate Decarboxylase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pyruvate Decarboxylase Deficiency

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20GeneTests, 22GTR
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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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32MalaCards
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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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50PubMed
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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

Genetic Variations for Pyruvate Decarboxylase Deficiency

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Expression for genes affiliated with Pyruvate Decarboxylase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyruvate Decarboxylase Deficiency

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Pathways for genes affiliated with Pyruvate Decarboxylase Deficiency

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53Reactome, 29KEGG, 4Cell Signaling Technology, 37NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Pyruvate Decarboxylase Deficiency

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44Novoseek, 2BitterDB, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Pyruvate Decarboxylase Deficiency according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1chloramphenicol44 2 1112.2PDX1
2lipoamide44 2411.0PDHA1, DLD
3thiamine pyrophosphate44 2410.9PDHB, PDHA1
4dichloroacetate449.9PC, PDHA1
5Lipoic Acid11 2410.6DLAT, PDHX
62-oxo acid449.3DLAT, DLD, PDHX
7dihydrolipoamide44 2410.3PDHX, DLD, DLAT
8Coenzyme A11 2410.2PDHA1, PDHB, DLD, DLAT
9carbon dioxide44 2410.2PDHA1, PDHB, DLD, DLAT
10nad28 2410.2DLAT, DLD, PDHB, PDHA1
11fructose44 1110.1SLC2A1, PC
12alpha-ketoglutarate448.8PDHX, PC, DLD, DLAT
13Pyruvic acid11 249.8PDHA1, PDHB, PC, DLD, DLAT
14acetyl-coa44 249.8PDHA1, PDHB, PC, DLD, DLAT
15nadh44 11 2410.7DLAT, DLD, PC, PDHB, PDHA1
16glycogen44 249.7SLC2A1, PC, PDHA1
17lactate448.6PDHA1, PC, DLD, SLC2A1
18atp44 289.1PDHA1, PC, DLAT, SLC2A1
19glucose448.0PDHX, PDX1, PDHA1, PC, SLC2A1
20alpha lipoic acid448.0SLC2A1, DLAT, DLD, PC, PDHX
21serine447.7PDHX, PDX1, DLD, SLC2A1, SRSF5
22pyruvate447.0SLC2A1, PDHX, PDX1, PDHA1, PDHB, PC

GO Terms for genes affiliated with Pyruvate Decarboxylase Deficiency

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16Gene Ontology
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Cellular components related to Pyruvate Decarboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase complexGO:0452549.8PDHB, PDHA1
2mitochondrial matrixGO:0057597.5DLAT, DLD, PC, PDHB, PDHA1, PDHX

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:0096119.6SRSF5, PDX1
2acetyl-CoA biosynthetic process from pyruvateGO:0060869.5PDHB, PDHA1
3tricarboxylic acid cycleGO:0060999.1DLAT, DLD, PDHB, PDHA1
4glucose metabolic processGO:0060068.7PDX1, PDHB, PC, DLAT
5regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105108.5PDHX, PDHA1, PDHB, DLD, DLAT
6cellular metabolic processGO:0442378.4PDHX, PDHA1, PDHB, DLD, DLAT
7pyruvate metabolic processGO:0060908.0DLAT, DLD, PC, PDHB, PDHA1, PDHX
8small molecule metabolic processGO:0442817.0PDHX, PDHA1, PDHB, PC, DLD, DLAT

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase (acetyl-transferring) activityGO:0047399.8PDHB, PDHA1
2pyruvate dehydrogenase activityGO:0047389.5PDHB, PDHA1

Products for genes affiliated with Pyruvate Decarboxylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet