[Hypermethioninemia. Apropos of a case in a consanguineous couple].

Abstract

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.

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@article{Vzquez1980HypermethioninemiaAO, title={[Hypermethioninemia. Apropos of a case in a consanguineous couple].}, author={J J Gu{\'i}zar V{\'a}zquez and G S{\'a}nchez Aguilar and Antonio Velazquez and Rodriguez Fragoso and I Rostenberg and I Alejandre}, journal={Boletín médico del Hospital Infantil de México}, year={1980}, volume={37 6}, pages={1237-44} }