A sibship with hypervalinemia
OS Reddi, SV Reddy, KRS Reddy - Human Genetics, 1977 - Springer
OS Reddi, SV Reddy, KRS Reddy
Human Genetics, 1977•SpringerDuring 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.
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.
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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