Glutaric aciduria type 1 | definition of Glutaric aciduria type 1 by Medical dictionary
glutaric aciduria (redirected from Glutaric aciduria type 1)
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An inherited disorder marked by multiple neurological deficits in childhood, including motor dysfunction, developmental delay, and brain atrophy. It is caused by defective manufacture of glutaryl-coenzyme A dehydrogenase.
References in periodicals archive
Glutaric aciduria type 1
presenting as subdural haematoma.
Aminoacidemias and organic acidemias: Glutaric aciduria type 1
Any attempt to completely eliminate the possibility of missing a true case of glutaric aciduria type 1
may come at the cost of establishing a cutoff so close to the mean as to result in an unacceptably high number of alerts.
According to the current available published data, congenital hypothyroidism, (1) galactosaemia (2) and glutaric aciduria type 1
(3) are probably the top three treatable conditions.