pyruvate decarboxylase deficiency
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
ଏହାର ମୁଖ୍ୟଶ୍ରେଣୀ
carbohydrate metabolic disorder[୪]
ଚିକିତ୍ସା ଶ୍ରେଣୀ
endocrinology
on focus list of Wikimedia project
ICD-9-CM
277.6[୩]
NCI Thesaurus ID
C103968[୨]
ଆଧାର
- ↑ inferred by common DOID mappings on source and on Wikidata
- ↑ ୨.୦୦ ୨.୦୧ ୨.୦୨ ୨.୦୩ ୨.୦୪ ୨.୦୫ ୨.୦୬ ୨.୦୭ ୨.୦୮ ୨.୦୯ ୨.୧୦ ୨.୧୧ Disease Ontology, ୧୫ ମଇ 2019, DOID:3649
- ↑ ୩.୦ ୩.୧ ୩.୨ ୩.୩ Monarch Disease Ontology release 2018-06-29, ୨୮ ଜୁଲାଇ 2018, MONDO_0010717
- ↑ ୪.୦ ୪.୧ ୪.୨ Disease Ontology, ୩୦ ନଭେମ୍ବର 2020, DOID:3649
- ↑ P08559, ୧୩ ଅଗଷ୍ଟ 2019, UniProt
- ↑ Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift
- ↑ Open Targets Platform, ୨୪ ଅଗଷ୍ଟ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000131828/MONDO_0010717
- ↑ Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency
- ↑ Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency
- ↑ Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation
- ↑ Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis
- ↑ Identifiers.org, https://registry.identifiers.org/registry/doid