Pyruvate Dehydrogenase E1-Alpha Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases
49OMIM, 11diseasecard, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 36MeSH, 65UMLS, 23Genetics Home Reference, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Pyruvate Dehydrogenase E1-Alpha Deficiency:
Orphanet epidemiological data:51
pyruvate dehydrogenase complex deficiency:
Inheritance: Autosomal recessive,Not applicable,X-linked dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,late childhood
pyruvate dehydrogenase e1-alpha deficiency:
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases
ICD10: 28 27
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 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 Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase complex deficiency, is related to pyruvate carboxylase deficiency and pyruvate dehydrogenase e2 deficiency, and has symptoms including muscular hypotonia, reduced consciousness/confusion and feeding difficulties in infancy. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase (Lipoamide) Alpha 1), and among its related pathways are and Vitamin digestion and absorption. Affiliated tissues include eye, brain and cortex, and related mouse phenotypes are liver/biliary system and behavior/neurological.
Disease Ontology:10 A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
UniProtKB/Swiss-Prot:67 Pyruvate dehydrogenase E1-alpha deficiency: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.
Genetics Home Reference:23 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.
OMIM:49 Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in... (312170) more...
Symptoms by clinical synopsis from OMIM:312170
Clinical features from OMIM:312170
Symptoms:51 (show all 38)
HPO human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:(show all 60)
Drugs for Pyruvate Dehydrogenase E1-Alpha Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Alpha Deficiency
MalaCards organs/tissues related to Pyruvate Dehydrogenase E1-Alpha Deficiency:33
Eye, Brain, Cortex, Lung
UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Alpha Deficiency:67 (show all 20)
Clinvar genetic disease variations for Pyruvate Dehydrogenase E1-Alpha Deficiency:5 (show all 23)
Search GEO for disease gene expression data for Pyruvate Dehydrogenase E1-Alpha Deficiency.
Pathways related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:(show all 9)
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet