Amino Acid/Protein Metabolism

Amino acid or protein metabolism disorders with epilepsy involve inherited metabolic defects that disrupt the normal breakdown or synthesis of amino acids or proteins, leading to the accumulation of toxic metabolites or deficiencies in essential compounds. These conditions often present with neurological symptoms, including seizures (epilepsy), developmental delay, intellectual disability, and abnormal muscle tone. Common examples include urea cycle disorders (e.g., ornithine transcarbamylase deficiency), organic acidemias (e.g., methylmalonic acidemia), and aminoacidopathies (e.g., phenylketonuria, maple syrup urine disease). Early diagnosis through newborn screening and prompt treatment—such as dietary restriction of specific amino acids, supplementation with cofactors or alternative pathways, and management of metabolic crises—are critical to preventing severe neurological damage and improving outcomes. Epilepsy in these disorders may result from neurotoxic metabolite buildup, energy deficiency in neurons, or disruption of neurotransmitter balance.

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