These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
32.
These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
33.
Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia.
34.
Free hydrogen ions then diffuse into the blood, lowering the pH . Arterial blood gas analysis detects acidemia ( pH lower than 7.35 ).
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.
36.
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.
37.
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.
38.
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.
39.
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.
40.
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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