A sibship with hypervalinemia |
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| Authors: | O. S. Reddi S. V. Reddy K. R. S. Reddy |
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| Affiliation: | (1) Department of Genetics, Osmania University, Hyderabad, India;(2) Department of Paediatrics, Gandhi Medical College, Hyderabad, India |
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| 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. |
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