MOLECULAR STUDY GLYCINE ENCEPHALOPATHY (GLDC GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4226

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	47 days
Information:
Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems. Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown.
Links:
OMIM Entry - # 605899 - GLYCINE ENCEPHALOPATHY; GCE
OMIM Entry - - 238300 - GLYCINE DECARBOXYLASE; GLDC

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