Detection of hereditary metabolic disorders involving amino acids and organic acids.
Inherited disorders in the metabolism of amino acids and organic acids may cause neurological dysfunction and acute metabolic crises. For many of these disorders, early diagnosis and early treatment can greatly improve the outcome. A general description of the clinical manifestations and a discussion of selected techniques and approaches for the laboratory diagnosis are reviewed.
Shih
V E
VE
Amino Acid Disorder Laboratory, Massachusetts General Hospital, Boston 02129.
D000596:Amino Acids / Q000378:metabolism*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*
D000596:Amino Acids