Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts

Shigeo Kure, Kunlaki Narisawa, Keiya Tada

Research output: Contribution to journalArticle

41 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)95-98
Number of pages4
JournalThe Journal of Pediatrics
Volume120
Issue number1
DOIs
Publication statusPublished - 1992 Jan

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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