Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts.
Level V
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Abstract
We developed a new enzymatic assay for the glycine cleavage system that used Epstein-Barr virus-transformed lymphoblasts instead of liver biopsy specimens. Patients with nonketotic hyperglycinemia from a deficiency of P-protein could be clearly distinguished from control subjects by activities in their lymphoblasts, suggesting the clinical usefulness of this method.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- B-Lymphocytes
- Glycine