RESUMO

A 16-year-old boy had intermittent chorea, delirium, and vertical gaze palsy precipitated by febrile illness. Nonketotic hyperglycinemia was confirmed by measurement of liver and lymphoblast glycine cleavage enzyme activity. Deficient but residual enzyme activity was demonstrated in both tissues, possibly accounting for the mild phenotype. Confirmation of an atypical variant of nonketotic hyperglycinemia with residual glycine cleavage enzyme activity has important implications for diagnosis and treatment.

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Glicina/sangue , Glicina/líquido cefalorraquidiano , Adolescente , Humanos , Cariotipagem , Fígado/enzimologia , Masculino , Fenótipo