AMINO ACID METABOLISM AND INHERITED METABOLIC DISORDERS: BIOCHEMICAL PATHWAYS, GENETIC DEFECTS, AND CLINICAL IMPLICATIONS
Abstract
Amino acids are fundamental biomolecules involved in protein synthesis, energy production, neurotransmitter formation, immune regulation, and numerous metabolic processes. Their metabolism is tightly controlled through interconnected pathways of transamination, deamination, decarboxylation, and nitrogen disposal. Genetic defects affecting enzymes, transport proteins, or cofactors involved in amino acid metabolism result in a diverse group of inherited metabolic disorders collectively known as aminoacidopathies. These disorders often lead to the accumulation of toxic metabolites, deficiency of essential metabolic products, and progressive damage to multiple organ systems. Common hereditary amino acid metabolism disorders include phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, alkaptonuria, and cystinuria. Advances in molecular genetics, newborn screening, and targeted therapies have significantly improved diagnosis and patient outcomes. This review discusses the physiological importance of amino acid metabolism, major metabolic pathways, inherited disorders, diagnostic approaches, prevention strategies, and emerging therapeutic perspectives.
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