Arginase Deficiency Presenting as Cerebral Palsy
1 Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX
2 Division of Endocrinology, Dept of Pediatrics, LSUMC, Shreveport, LA
3 Institute for Molecular Genetics, Howard Hughes Medical Institute, Dept of Pediatrics, Baylor College of Medicine
4 Institute for Molecular Genetics, Dept of Pediatrics, Baylor College of Medicine
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.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 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.
CASE REPORTS
Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.
Submitted on November 20, 1992Accepted on February 17, 1993
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