NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

NMR in Biomedicine

Volumn 19, Issue 2, 2006, Pages 271-278

  Engelke, Udo F H ^a   Kremer, Berry ^a   Kluijtmans, Leo A J ^a   van der Graaf, Marinette ^a   Morava, Eva ^a   Loupatty, Ference J ^b   Wanders, Ronald J A ^b   Moskau, Detlef ^c   Loss, Sandra ^c   van den Bergh, Erik ^d   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c BRUKER BIOSPIN AG   (Switzerland)

^d Medical Solutions   (Netherlands)

Author keywords

3 hydroxyisovaleric acid; 3 methylglutaconic aciduria type I; Geometric isomerism of 3 methylglutaconic acid; Leucine brain metabolism; Leukoencephalopathy; NMR spectroscopy

Indexed keywords

AMINO ACIDS; BODY FLUIDS; MAGNETIC RESONANCE IMAGING; MEDICAL IMAGING; METABOLISM; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY;

CEREBROSPINAL FLUID; LEUCINE BRAIN METABOLISM; LEUKOENCEPHALOPATHY; METHYLGLUTACONIC ACIDURIA;

BRAIN;

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTARIC ACID; ISOVALERIC ACID; LEUCINE;

ACIDURIA; ADULT; AMINO ACID METABOLISM; BIOACCUMULATION; BLOOD LEVEL; BODY FLUID; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CONCENTRATION (PARAMETERS); DATA ANALYSIS; DIAGNOSTIC ACCURACY; DISEASE COURSE; FEMALE; HUMAN; IMAGING SYSTEM; IN VITRO STUDY; IN VIVO STUDY; INBORN ERROR OF METABOLISM; LEUKOENCEPHALOPATHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; REVIEW; URINALYSIS; URINARY EXCRETION; WHITE MATTER;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; FEMALE; GLUTARATES; HUMANS; LEUCINE; MAGNETIC RESONANCE SPECTROSCOPY; MEGLUTOL; MIDDLE AGED; VALERATES;

EID: 33645507050     PISSN: 09523480     EISSN: 10991492     Source Type: Journal    
DOI: 10.1002/nbm.1018     Document Type: Review

References (23)

1. Iles RA, Hind AJ, Chalmers RA. Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias. Clin. Chem. 1985; 31: 1795-1801.
2. Holmes E, Foxall PJ, Spraul M, Farrant RD, Nicholson JK, Lindon JC. 750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease. J. Pharm. Biomed. Anal. 1997; 15: 1647-1659.
3. 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: 260-266.
4. Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A. Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin. Chem. 1995; 41: 744-751.
5. Iles RA, Jago JR, Williams SR, Chalmers RA. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency studied using 2-dimensional proton nuclear magnetic resonance spectroscopy. FEBS Lett. 1986; 203: 49-53.
6. Stockler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, Hanicke W, Frahm J. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr. Res. 1994; 36: 409-413.
7. Brockmann K, Bjornstad A, Dechent P, Korenke CG, Smeitink J, Trijbels JM, Athanassopoulos S, Villagran R, Skjeldal OH, Wilichowski E, Frahm J, Hanefeld F. Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann. Neurol. 2002; 52: 38-46.
8. Varho T, Komu M, Sonninen P, Holopainen I, Nyman S, Manner T, Sillanpaa M, Aula P, Lundbom N. A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. Neurology 1999; 52: 1668-1672.
9. Grodd W, Krageloh Mann I, Petersen D, Trefz FK, Harzer K. In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy. Lancet 1990; 336: 437-438.
10. Willemsen MA, Van Der Graaf M, Van Der Knaap MS, Heerschap A, Van Domburg PH, Gabreels FJ, Rotteveel JJ. MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR Am. J. Neuroradiol. 2004; 25: 649-657.
11. Martin E, Capone A, Schneider J, Hennig J, Thiel T. Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy? Ann. Neurol. 2001; 49: 518-521.
12. Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, Van Der Knaap MS. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am. J. Hum. Genet. 2004; 74: 745-751.
13. Linnankivi T, Lundbom N, Autti T, Hakkinen AM, Koillinen H, Kuusi T, Lonnqvist T, Sainio K, Valanne L, Aarimaa T, Pihko H. Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology 2004; 63: 688-692.
14. Van Der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann. Neurol. 2003; 53: 252-258.
15. Brooks DJ, Lammertsma AA, Beaney RP, Leenders KL, Buckingham PD, Marshall J, Jones T. Measurement of regional cerebral pH in human subjects using continuous inhalation of 11CO2 and positron emission tomography. J. Cereb. Blood Flow Metab. 1984; 4: 458-465.
16. Pouwels PJ, Frahm J. Regional metabolite concentrations in human brain as determined by quantitative localized proton MRS. Magn. Reson. Med. 1998; 39: 53-60.
17. Kelley RI. Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry. Clin. Chim. Acta 1993; 220: 157-164.
18. Illsinger S, Lucke T, Zschocke J, Gibson KM, Das AM. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. Pediatr. Neurol. 2004; 30: 213-215.
19. Duran M, Baumgartner ER, Suormala TM, Bruinvis L, Dorland L, Smeitink JA, Poll The BT. Cerebrospinal fluid organic acids in biotinidase deficiency. J. Inherit. Metab. Dis. 1993; 16: 513-516.
20. Yudkoff M, Daikhin Y, Grunstein L, Nissim I, Stern J, Pleasure D, Nissim I. Astrocyte leucine metabolism: significance of branched-chain amino acid transamination. J. Neurochem. 1996; 66: 378-385.
21. Bixel M, Shimomura Y, Hutson S, Hamprecht B. Distribution of key enzymes of branched-chain amino acid metabolism in glial and neuronal cells in culture. J. Histochem. Cytochem. 2001; 49: 407-418.
22. Bixel MG, Hamprecht B. Immunocytochemical localization of beta-methylcrotonyl-CoA carboxylase in astroglial cells and neurons in culture. J. Neurochem. 2000; 74: 1059-1067.
23. Lynen F, Knappe J, Lorch E, Juetting G, Ringelmann E, Lachance J. On the biochemical function of biotin. II. Purification and mode of action of beta-methyl-crotonyl-carboxylase. Biochem. Z. 1961; 335: 123-167.