[Hypermethioninemia. Apropos of a case in a consanguineous couple].
We describe a female child from a consanguineous marriage (uncle-niece) with hypermethioninemia and hypermethioninuria without homocystinuria. She had several signs and symptoms previously undescribed in this pathology as growth retardation, generalized hypotonia, digestive disturbances, white skin, hypochromia of iris, thin, sparse and blond scalp hair. The pedigree suggests an autosomal recessive inheritance pattern.
D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008659:Metabolic Diseases / Q000175:diagnosis / Q000235:genetics*; D008715:Methionine / Q000097:blood*; D010375:Pedigree
D008715:Methionine
Hipermetioninemia. A propósito de un caso en un matrimonio consanguíneo.