Homocysteine, Total, Plasma As an aid for screening patients
suspected of having an inherited disorder of methionine
metabolism including: -Cystathionine beta-synthase deficiency
(homocystinuria) -Methylenetetrahydrofolate reductase deficiency
(MTHFR) and its thermolabile variants: -Methionine synthase
deficiency -Cobalamin (Cbl) metabolism: -Combined methyl-Cbl and
adenosyl-Cbl deficiencies: Cbl C2, Cbl D2, and Cbl F3
deficiencies -Methyl-Cbl specific deficiencies: Cbl D-Var1, Cbl
E, and Cbl G deficiencies -Transcobalamin II deficiency:
-Adenosylhomocysteinase (AHCY) deficiency -Glycine
N-methyltransferase (GNMT) deficiency -Methionine
adenosyltransferase (MAT) I/III deficiency Clinical Information
Discusses physiology, pathophysiology, and general clinical
aspects, as they relate to a laboratory test To be used in
conjunction with plasma amino acids and urine organic acids to
aid in the biochemical screening for primary and secondary
disorders of methionine metabolism. Homocysteine is an
intermediary in the