Artigo Revisado por pares

Xanthinuria: An Additional Case with Demonstration of Xanthine Oxidase Deficiency

1971; Oxford University Press; Volume: 55; Issue: 3 Linguagem: Inglês

10.1093/ajcp/55.3.351

ISSN

1943-7722

Autores

Oded Sperling, Uri Liberman, M. Frank, André de Vries,

Tópico(s)

Porphyrin Metabolism and Disorders

Resumo

An additional patient with xanthinuria, the ninth on record, is presented. Xanthine oxidase deficiency was proven in the small intestinal mucosa obtained by peroral biopsy. The patient did not have clinical manifestations related to the disorder. Problems of diagnosis and mode of inheritance of this disorder are discussed.

Referência(s)