L-Cystathionine

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L-Cystathionine
2D structure for L-Cystathionine
Chemical Name	(2S)-2-amino-4-[(2R)-2-amino-3-hydroxy-3-oxopropyl]sulfanylbutanoic acid
Chemical Formula	C₇H₁₄N₂O₄S
CAS Number	56-88-2
Chemical Information	HMDB00099
Biochemical Taxonomy	Amino Acids
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Methionine Metabolism
Biofluid Location	Blood Cerebrospinal Fluid (CSF) Urine
Tissue Location	Brain
Normal Biofluid Concentrations	Blood: 1.0 (0.3-5.5) uM Blood: 6.65 (4.3-9.0) uM Cerebrospinal Fluid (CSF): 0.024 +/- 0.006 uM Urine: 1.84 (0.39-3.28) umol/mmol creatinine
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Cobalamin Deficiency Folate Deficiency Probable Alzheimer's Disease
Other (Monogenic Disorders)	Cystathioninuria OMIM: 219500 Homocysteinemia OMIM: 603174 Methylcobalamin deficiency, CBLG type OMIM: 250940 Thrombophilia OMIM: 188050
Abnormal Biofluid Concentrations	Blood (Cobalamin Deficiency): 1.56 (0.21 - 2.9) uM Blood (Folate Deficiency): 2.14 (0.14 - 4.1) uM Blood (Probable Alzheimer's Disease): 1.03 +/- 0.22 uM
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Introduction

guidelines
Cystathionine is a dipeptide formed by serine and homocysteine. Cystathioninuria is a prominent manifestation of vitamin-B6 deficiency. The transsulfuration of methionine yields homocysteine, which combines with serine to form cystathionine, the proximate precursor of cysteine through the enzymatic activity of cystathionase. In conditions in which cystathionine gamma-synthase or cystathionase is deficient, for example, there is cystathioninuria. Although cystathionine has not been detected in normal human serum or plasma by most conventional methods, gas chromatographic/mass spectrometric methodology detected a mean concentration of cystathionine in normal human serum of 140 nM, with a range of 65 to 301 nM.567 Cystathionine concentrations in CSF have been 10, 1, and 0.5 uM, and "not detected." Only traces (i.e., <1 uM) of cystathionine are present in normal CSF.587. gamma-Cystathionase deficiency provided the first instance in which, in a human, the major biochemical abnormality due to a defined enzyme defect was clearly shown to be alleviated by administration of large doses of pyridoxine. The response in gamma-cystathionase-deficient patients is not attributable to correction of a preexisting deficiency of this vitamin. (OMMBID, Chap. 88)