MeSH 搜索器

Propionic Acidemia

Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
推出的年份: 2010
副标题
树号: C16.320.565.100.823, C18.452.648.100.823
MeSH 单一 ID: D056693
进入的组:
  • Acidemia, Propionic
  • Acidemias, Propionic
  • Propionic Acidemias
  • Glycinemia, Ketotic
  • Glycinemias, Ketotic
  • Ketotic Glycinemias
  • Hyperglycinemia With Ketoacidosis And Leukopenia
  • Ketotic Glycinemia
  • PCC Deficiency
  • Deficiencies, PCC
  • Deficiency, PCC
  • PCC Deficiencies
  • Propionicacidemia
  • Propionicacidemias
  • Propionyl-CoA Carboxylase Deficiency
  • Carboxylase Deficiencies, Propionyl-CoA
  • Carboxylase Deficiency, Propionyl-CoA
  • Deficiencies, Propionyl-CoA Carboxylase
  • Deficiency, Propionyl-CoA Carboxylase
  • Propionyl CoA Carboxylase Deficiency
  • Propionyl-CoA Carboxylase Deficiencies
  • Acidemia Propionic
  • Acidemia Propionics
  • Propionic, Acidemia
  • Propionics, Acidemia
  • Ketotic Hyperglycinemia
  • Hyperglycinemia, Ketotic
  • Hyperglycinemias, Ketotic
  • Ketotic Hyperglycinemias
  • Propionicaciduria
  • Propionicacidurias
  • Propionic Aciduria
  • Aciduria, Propionic
  • Acidurias, Propionic
  • Propionic Acidurias
早前的内容:
  • Methylmalonyl-CoA Decarboxylase (1981-2009)

留言 (0)

沒有登入
gif