Information om | Engelska ordet ACIDEMIA

Exempel på hur man kan använda ACIDEMIA i en mening

• Multiple acyl-CoA dehydrogenase deficiency, another name for the genetic disorder Glutaric acidemia type 2.
• For instance, a diabetic with ketoacidosis is a recognizable case where the main cause of acidemia is essentially obvious.
• Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
• Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
• Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan.
• Individuals with glutaric acidemia type 2 frequently experience exercise-induced muscle fatigue, hypotonia, myalgia, and proximal muscle weakness.
• Glycine encephalopathy is sometimes referred to as "nonketotic hyperglycinemia" (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause "ketotic hyperglycinemia" (seen in propionic acidemia and several other inherited metabolic disorders).
• Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
• SBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia.
• However, one study on the treatment of children with methylmalonic acidemia and homocystinuria found oral hydroxocobalamine at 1 mg daily to be ineffective in reducing levels of homocysteine.
• Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I.
• Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect.
• The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
• An excess of acid is called acidosis or acidemia, while an excess in bases is called alkalosis or alkalemia.
• Conditions which have been reported in newborns who suffered fetal acidemia include hypoxic-ischemic encephalopathy and periventricular leukomalacia.
• Methylmalonic acidemia: defined as blood having an unusually high concentration of methylmalonyl CoA.
• His research during this period included the description and elucidation of a new hereditary disorder of leucine metabolism called isovaleric acidemia, the definition of enzymatic defects in absorptive disorders, delineations of biochemical mechanism of nutrient absorption,.
• The subdivisions of this spectrum are hyperpipecolic acidemia, infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome.
• He discovered new inherited disorders of organic acid metabolism (propionic and methylmalonic acidemia), and defined key aspects of ornithine transcarbamylase deficiency leading to ammonia intoxication, including its mode of inheritance and mechanism of the enzyme's transport to mitochondria.
• Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic acid and methylmalonic acid.

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