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Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
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Article Abstract
Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle.The enzyme deficiency disease,argininemia,is a rare autosomal recessive disorder which presents with progressive psychomotor retardation,growth failure,seizures,and spasticity affecting the lower extremities more than the upper.It does not,however,commonly have the severe hyperammonemia seen with other urea cycle disorders.We describe two unrelated patients,previously thought to have cerebral palsy, who were later found to have arginase deficiency.This suggests that the condition may be underdiagnosed because of its relatively mild symptoms.
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ataxic gait
cerebral palsy
gait disorder
growth retardation
mental retardation
toe walking
urea-cycle enzymopathies

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