4-hydroxybutyric aciduria | definition of 4-hydroxybutyric aciduria by Medical dictionary
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4-hy·drox·y·bu·tyr·ic ac·i·du·ri·a (hī-drok'sē-byū-tir'ik as'i-dū'rē-ă),
Elevated levels of 4-hydroxybutyrate in the urine. An inherited disorder that can lead to hypotonia and mental retardation.
References in periodicals archive
These included one of two cases of 2-aminoadipic acidemia (OMIM 204750), one of seven cases of 4-hydroxybutyric aciduria
(OMIM 271980), and a single case of Barth syndrome (X-linked cardiomyopathy; OMIM 302060).