acidemias sentence in Hindi
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- Common treatment methods for MMA include a liver transplant or a liver and kidney transplant to combat the renal disease of methylmalonic acidemia.
- The four main types of organic acidemia are : methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
- The four main types of organic acidemia are : methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
- The four main types of organic acidemia are : methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
- The four main types of organic acidemia are : methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
- Some infants with glutaric acidemia type 2 have birth defects, including multiple fluid-filled growths in the kidneys ( polycystic kidneys ).
- While methylmalonic acidemia has a variety of causes, both genetic and dietary, methylmalonyl CoA mutase deficiency is an autosomal recessive genetic disorder.
- These intermediate breakdown products are particularly prone to affect the basal ganglia, causing many of the signs and symptoms of glutaric acidemia type 1.
- Failure of this system to function properly results in acid-base imbalance such as acidemia ( pH 7.45 ) in the blood.
- The GC-MS platform is recommended by the American College of Medical Genetics for the detection of organic and amino acidemias through the urine.
- 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.
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