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Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases

1987; Elsevier BV; Volume: 110; Issue: 6 Linguagem: Inglês

10.1016/s0022-3476(87)80399-2

1097-6833

Kiyoshi Hayasaka, Keiya Tada, Noboru Fuekl, Yasuhide Nakamura, William L. Nyhan, Kathleen Schmidt, Seymour Packman, Margaretta R. Seashore, Eric Haan, David M. Danks, R. B. H. Schutgens,

Protein Structure and Dynamics

The molecular nature of the glycine cleavage system was investigated in eightpatients with typical (neonatal) and two patients with atypical (late onset) nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied, but it was undetectable or extremely low in typical NKH, whereas there was some residual activity in atypical NKH. Six patients with typical NKH had a specific defect in the P protein, and one a defect in the T protein; the activity of the T protein was defective in one patient with atypical NKH. The molecular nature of the glycine cleavage system was investigated in eightpatients with typical (neonatal) and two patients with atypical (late onset) nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied, but it was undetectable or extremely low in typical NKH, whereas there was some residual activity in atypical NKH. Six patients with typical NKH had a specific defect in the P protein, and one a defect in the T protein; the activity of the T protein was defective in one patient with atypical NKH.