PDHC
MCID: PYR002
MIFTS: 35

Pyruvate Decarboxylase Deficiency (PDHC) malady

Genetic diseases, Rare diseases categories

Summaries for Pyruvate Decarboxylase Deficiency

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 pyruvate carboxylase deficiency disease and lactic acidosis. An important gene associated with Pyruvate Decarboxylase Deficiency is PDHB (pyruvate dehydrogenase (lipoamide) beta). Affiliated tissues include eye and liver.

Genetics Home Reference:22 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:48 312170

Aliases & Classifications for Pyruvate Decarboxylase Deficiency

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 63UMLS, 59SNOMED-CT, 48OMIM, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

pyruvate decarboxylase deficiency 9 44 11
pyruvate dehydrogenase complex deficiency 44 21 23 22
pyruvate dehydrogenase deficiency 9 44 22
pyruvate dehydrogenase complex deficiency disease 9 63
ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency 44
intermittent ataxia with pyruvate dehydrogenase deficiency 22
deficiency of pyruvic dehydrogenase 9
ataxia with lactic acidosis 1 44
ataxia with lactic acidosis 22
pdhc deficiency 22
pdh deficiency 22
pdhc 44


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Disease Ontology9 DOID:3649
OMIM48 312170
MeSH36 D015325

Related Diseases for Pyruvate Decarboxylase Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

312170

Drugs & Therapeutics for Pyruvate Decarboxylase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Pyruvate Decarboxylase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Pyruvate Decarboxylase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Complex Deficiency21 23

Anatomical Context for Pyruvate Decarboxylase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Pyruvate Decarboxylase Deficiency:

34
Eye, Liver

Animal Models for Pyruvate Decarboxylase Deficiency or affiliated genes

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Publications for Pyruvate Decarboxylase Deficiency

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53PubMed
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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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2BioGPS, 16Gene 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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Compounds for genes affiliated with Pyruvate Decarboxylase Deficiency

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GO Terms for genes affiliated with Pyruvate Decarboxylase Deficiency

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet