INHERITED DISORDERS OF AMINO ACID METABOLISM: BIOCHEMICAL FOUNDATIONS AND MOLECULAR MECHANISMS
Keywords:
Keywords: amino acid metabolism, inborn errors of metabolism, phenylketonuria, maple syrup urine disease, homocystinuria, mass spectrometry, newborn screeningAbstract
Abstract
Background: Inborn errors of amino acid metabolism constitute a significant
class of genetic disorders that may lead to severe neurological impairment, growth
retardation, and systemic dysfunction if not diagnosed and managed promptly.
Methods: A comprehensive literature review was conducted, examining
epidemiological data, biochemical mechanisms, diagnostic strategies, and therapeutic
approaches related to major inherited amino acid metabolism disorders.
Results: Conditions such as phenylketonuria, maple-syrup urine disease, and
homocystinuria exhibit distinct biochemical signatures enabling early detection
through newborn screening. Tandem mass spectrometry has substantially improved
diagnostic precision. Therapeutic strategies primarily include dietary restriction,
cofactor supplementation, and metabolic detoxification, while emerging modalities—
such as gene therapy and enzyme replacement—demonstrate promising potential.
Conclusion: Early identification via systematic newborn screening, combined
with targeted dietary and pharmacological management, significantly enhances long-
term outcomes. Future research is directed toward molecularly targeted therapies,
including gene-editing techniques and small-molecule modulators.
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