A sibship with hypervalinemia |
| |
| Authors: | O S Reddi S V Reddy K R S Reddy |
| |
| Institution: | (1) Department of Genetics, Osmania University, Hyderabad, India;(2) Department of Paediatrics, Gandhi Medical College, Hyderabad, India |
| |
| Abstract: | Summary During routine screening of amino-acid disorders, we detected hypervalinemia in two sibs (a girl of 4 and a boy of 3 years of age) of a consanguineous marriage. There was no excess accumulation or excretion of leucine or isoleucine, which presumably indicates the absence of valine tranxaminase. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
