Pyruvate Dehydrogenase E1-Alpha Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Pyruvate Dehydrogenase E1-Alpha Deficiency:
Orphanet epidemiological data:53
pyruvate dehydrogenase complex deficiency:
Inheritance: Autosomal recessive,Not applicable,X-linked dominant; Prevalence: <1/1000000 (Europe); 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: 30 29
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Genetics Home Reference:25 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.
MalaCards based summary: Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase complex deficiency, is related to pyruvate carboxylase deficiency and pyruvate dehydrogenase e1-beta 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 HIF-1 signaling pathway and Central carbon metabolism in cancer. Affiliated tissues include cortex, brain and eye.
Disease Ontology:11 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:69 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.
OMIM:51 Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in... (312170) more...
Diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency:
Human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:63 53 (show all 61)
UMLS symptoms related to Pyruvate Dehydrogenase E1-Alpha Deficiency:lethargy, seizures, nasal flaring
Drugs for Pyruvate Dehydrogenase E1-Alpha Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Alpha Deficiency
MalaCards organs/tissues related to Pyruvate Dehydrogenase E1-Alpha Deficiency:35
Cortex, Brain, Eye
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 13)
Cellular components related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet