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Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in
childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency
of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits.
Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric
aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are
real... |
