hyperglycinemia การใช้

• Transient neonatal hyperglycinemia has been described in a very small number of cases.
• Nonketotic hyperglycinemia ( NKH ) is an inborn error of metabolism caused by deficiency in the glycine cleavage system ( GCS ).
• Glycine encephalopathy ( nonketotic hyperglycinemia, or NKH ) should not be confused with other metabolic disorders that can produce elevated glycine levels.
• Further research has shown that deletions and mutations in the 5'region of the P-protein are the major genetic causes of nonketotic hyperglycinemia ..
• Newborn babies experience with vomiting, acidosis, hyperammonemia, hepatomegaly ( enlarged livers ), hyperglycinemia ( high glycine levels ), and hypoglycemia ( low blood sugar ).
• Mutations in the GLRX5 gene have been associated with sideroblastic anemia, variant glycine encephalopathy ( also known as non-ketotic hyperglycinemia, NKH ) . as well as pyridoxine-refractory, autosomal recessive anemia ( PRARSA ).
• Glycine encephalopathy, also known as non-ketotic hyperglycinemia ( NKH ), is a primary disorder of the glycine cleavage system, resulting from lowered function of the glycine cleavage system causing increased levels of glycine in body fluids.
• 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 ).
• 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 ).