Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study

Clinical Chemistry

Volumn 45, Issue 4, 1999, Pages 459-464

  Moolenaar, Sytske H ^a   Poggi Bach, Jo ^b   Engelke, Udo F H ^a   Corstiaensen, Jacqueline M B ^a   Heerschap, Arend ^a   De Jong, Jan G N ^a   Binzak, Barbara A ^c   Vockley, Jerry ^c   Wevers, Ron A ^a,d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BICÊTRE HOSPITAL   (France)

^c MAYO CLINIC   (United States)

^d Institute of Neurology   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; CREATININE; DIMETHYLGLYCINE; FOLIC ACID; OXIDOREDUCTASE; TRIMETHYLAMINE; TRIMETHYLAMINE OXIDE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; CREATININE BLOOD LEVEL; ENZYME DEFICIENCY; FOLIC ACID BLOOD LEVEL; GAS CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; MALE; MASS SPECTROMETRY; METABOLIC DISORDER; MISSENSE MUTATION; MUSCLE FATIGUE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY;

EID: 0032943111     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.4.459     Document Type: Article

References (15)

1. 1. MacKenzie CG, Abeles RH. Production of active formaldehyde in the mitochondrial oxidation of sarcosine-CD3. J Biol Chem 1956; 222:145-50.
2. 2. Scott CR. Sarcosinemia. In: Scriver RS, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:1329-48.
3. 3. Wevers RA, Engelke U, Heerschap A. High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies. Clin Chem 1994;40:1245-50.
4. 4. Allen RH, Stabler SP, Lindenbaum J. Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 1993;42:1448-60.
5. 5. Dudman NP, Wilcken DE, Wang J, Lynch JF, Macey D, Lundberg P. Disordered methionine/homocysteine metabolism in premature vascular disease. Its occurrence, cofactor therapy, and enzymology. Arterioscler Thromb 1993;13:1253-60.
6. 6. Frerman FE, Goodman SI. Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II. In: Scriver RS, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995: 1611-29.
7. 7. Humbert JA, Hammond KB, Hathaway WE. Trimethylaminuria: the fish-odour syndrome. Lancet 1970;2:770-1.
8. 8. Abeling NG, van Gennip AH, Bakker HD, Heerschap A, Engelke U, Wevers RA. Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine. J Inherit Metab Dis 1995;18:182-4.
9. 9. Wevers RA, Engelke U, Rotteveel JJ, Heerschap A, de Jong JGN, Abeling NGGM, van Gennip AH, deAbreu RA. 1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism. J Inherit Metab Dis 1997;20:345-50.
10. 10. Neild GH, Foxall PJ, Lindon JC, Holmes EC, Nicholson JK. Uroscopy in the 21st century: high-field NMR spectroscopy. Nephrol Dial Transplant 1997;12:404-17.
11. 11. Burns SP, Woolf DA, Leonard JV, Iles RA. Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy. Clin Chim Acta 1992;209:47-60.
12. 12. Lehnert W, Hunkler D. Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry. Eur J Pediatr 1986;145:260-6.
13. 1H NMR determination of urinary betaine in patients with premature vascular disease and mild homocysteinemia. Clin Chem 1995:41:275-83.
14. 14. Stöckler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 1994;36:409-13.
15. 15. Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreëls FJ, Heerschap A. Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem 1995;41:744-51.