Clinical and Biochemical Findings in Argininemia
In April 1968 two female siblings, 5 years and 2 months of age respectively, came under our observation. They were the offsprings of probably consanguinous parents. The elder sibling had a history of motor and mental retardation, seizures and spasticity predominantly in the lower extremities. The younger sibling presented us with major convulsive attacks, and showed a progressive loss of motor and mental skills together with increasingly more severe spasticity of both legs, during her first year of life In addition, she had intermittant episodes of vomiting, poor appetite and lethargy, features never present in the elder girl probably because of a self-selected low protein intake. In 1971 another female sibling was born who developed the same symptoms.
KeywordsUrea Cycle Arginase Activity Orotic Acid Urea Cycle Disorder Arginine Concentration
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