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Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Fissured tongue is a benign condition characterized by deep grooves in the dorsum of the tongue. Although these grooves may look unsettling, the condition is usually ...
Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E(1)α subunit, with few cases of mutations in the genes for E3, E3BP, and E2 being described. However, there are a few cases in which mutations in the beta subunit gene have resulted in patients with Leigh syndrome. [16]
Vitamin B2 deficiency (ariboflavinosis) can cause several signs in the mouth, possibly including geographic tongue, [14] although other sources state that geographic tongue is not related to nutritional deficiency. [2] Fissured tongue often occurs simultaneously with geographic tongue, [1] and some consider fissured tongue to be an end stage of ...
Pyruvate dehydrogenase complex. Pyruvate dehydrogenase complex (PDC) is a complex of three enzymes that converts pyruvate into acetyl-CoA by a process called pyruvate decarboxylation. [1] Acetyl-CoA may then be used in the citric acid cycle to carry out cellular respiration, and this complex links the glycolysis metabolic pathway to the citric ...
Many patients with 6-phosphogluconate dehydrogenase deficiency are carriers and have no symptoms. It has been discovered that symptoms manifest more frequently in female carriers. Depending on how severe the deficiency is, it has been demonstrated that enzyme activity is reduced by 35–65%. [citation needed]
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. [2] High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.
n/a Ensembl ENSG00000163114 n/a UniProt P29803 n/a RefSeq (mRNA) NM_005390 n/a RefSeq (protein) NP_005381 n/a Location (UCSC) Chr 4: 95.84 – 95.84 Mb n/a PubMed search n/a Wikidata View/Edit Human Pyruvate dehydrogenase (lipoamide) alpha 2, also known as pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial or PDHE1-A type II, is an enzyme that in humans is ...