Voltar
Artigo Acesso aberto Revisado por pares
BIBTEX RIS

Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-1-pyrophophate Synthetase of Erythrocytes

1974; Tohoku University; Volume: 113; Issue: 2 Linguagem: Inglês

10.1620/tjem.113.149

ISSN

1349-3329

Autores

Yoshiro Wada, Yasuhiro Nishimura, Muneyuki Tanabu, Yozo Yoshimura, Kazuie Iinuma, Toshio Yoshida, Tsuneo Arakawa,

Tópico(s)

Neonatal Health and Biochemistry

Resumo

An infant with hypouricemia due to a defect of 5-phosphoribosyl-l-pyrophosphate synthetase (PRPP synthetase) (E. C. 2. 7. 6. 1. ) was described, who was characterized by severe mental retardation, megaloblastic changes in the bone marrow, an abnormally high level of urinary excretion of orotic acid, an4 decreased levels of uric acid in the plasma and urine.

Referência(s)