Can phenylketonuria cause convulsions?
Updated on June 07, 2025
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Phenylketonuria can cause seizures. It is a common amino acid metabolic disorder, an autosomal recessive genetic disease caused by mutations in the phenylalanine hydroxylase gene. This leads to reduced or lost enzyme activity, causing the accumulation of phenylalanine and its metabolic products in the body, which leads to the disease. The incidence rate in China is about 1/16,500, with certain racial and regional differences. Clinically, it is characterized by delayed growth and intellectual development, seizures, hyperreflexia, eczema, etc.
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