acidemias उदाहरण वाक्य
उदाहरण वाक्य
- These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
- These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
- Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia.
- Free hydrogen ions then diffuse into the blood, lowering the pH . Arterial blood gas analysis detects acidemia ( pH lower than 7.35 ).
- The combination of inhibited urea synthesis and poor protein metabolism, as well as a weakly replenished tricarboxylic acid cycle contribute to the symptoms of methylmalonic acidemia.
- After she went to prison, Stallings gave birth to another child; he was diagnosed from methylmalonic acidemia, a medical condition that can mimic antifreeze poisoning.
- Propionic acidemia is inherited in an autosomal recessive pattern and is found in about 1 in 35, 000 with a frequency of about 1 in 3, 000.
- As a result, propionyl-CoA, propionic acid, ketones, ammonia, and other toxic compounds accumulate in the blood, causing the signs and symptoms of propionic acidemia.
- The condition is inherited in an autosomal recessive pattern : mutated copies of the gene " GCDH " must be provided by both parents to cause glutaric acidemia type 1.
- Glutaric acidemia type 2 often appears in infancy as a sudden metabolic crisis, in which acidosis and low blood sugar ( hypoglycemia ) cause weakness, behavior changes, and vomiting.