Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy

Journal of Inherited Metabolic Disease

Volumn 26, Issue 8, 2003, Pages 761-773

  Orendac M ^a,b   Zeman, J ^b   Stabler, S P ^c   Allen, R H ^c   Kraus, J P ^c   Bodamer, O ^d   Stockler Ipsiroglu S ^d   Kvasnicka J ^b   Kozich V ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY OF COLORADO   (United States)

^d UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CREATINE; CYSTATHIONINE; CYSTATHIONINE BETA SYNTHASE; CYSTEINE; FOLIC ACID; GLUTATHIONE; GUANIDINOACETIC ACID; HOMOCYSTEINE; METHIONINE; PYRIDOXINE; S ADENOSYLHOMOCYSTEINE; SARCOSINE; SERINE;

ADOLESCENT; ADULT; AMINO ACID METABOLISM; ARTICLE; BLOOD ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTATHIONINE BETA SYNTHASE DEFICIENCY; DIET SUPPLEMENTATION; DIET THERAPY; DRUG EFFICACY; DRUG WITHDRAWAL; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FEMALE; HOMOCYSTINURIA; HUMAN; LONG TERM CARE; MALE; PATHOGENESIS; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN METHYLATION; REFERENCE VALUE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HOMOCYSTINURIA; HUMANS; MALE; S-ADENOSYLHOMOCYSTEINE; S-ADENOSYLMETHIONINE;

EID: 0942266395     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000009963.88420.c2     Document Type: Article

References (13)

1. Allen RH, Stabler SP, Lindenbaum J (1993) Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42: 1448-1460.
2. Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE (2001) Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta 308: 173-178.
3. De Koning TJ, Duran M, Van Maldergem L, et al (2002) Congenital microcephaly and seizures due to 3-phosphoglyceraldehyde dehydrogenase deficiency: outcome of treatment with amino acid. J Inherit Metab Dis 25: 119-125.
4. Dudman NP, Tyrrell PA, Wilcken DE (1987) Homocysteinemia: depressed plasma serine levels. Metabolism 36: 198-201.
5. Helland S, Ueland PM (1983) Effect of 2′-deoxycoformycin infusion on S-adenosylhomocysteine hydrolase and the amount of S-adenosylhomocysteine and related compounds in tissues of mice. Cancer Res 43: 4142-4147.
6. Janošík M, Oliveriusová J, Janošíková B, et al (2001) Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet 68(6): 1506-1513.
7. Krijt J, Vacková M, Kožich V (2001) Measurement of homocysteine and other aminothiols in plasma: advantages of using TCEP as reductant compared to tri-n-butylphosphine. Clin Chem 47: 1821-1828.
8. Mudd HS, Poole JR (1975) Labile methyl balances for normal humans on various dietary regimens. Metabolism 24: 721-735.
9. Mudd SH, Levy HL, Kraus JP (2001) Disorders of transsulphuration. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2007-2056.
10. Stabler SP, Lindenbaum J, Savage DG, Allen RH (1993) Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood 81: 3404-3413.
11. Stabler SP, Sampson DA, Wang LP, Allen RH (1997) Elevations of serum cystathionine and total homocysteine in pyridoxine, folate and cobalamin deficient rats. Nutr Biochem 8: 279-289.
12. Stabler SP, Steegborn C, Wahl MC, et al (2002) Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism 51(8): 981-988.
13. Togawa T, Sengupta S, Chen H, et al (2000) Mechanisms for the formation of protein-bound homocysteine in human plasma. Biochem Biophys Res Commun 277(3): 668-674.