1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency
Language English Country Germany Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- DNA Primers genetics MeSH
- Creatine deficiency MeSH
- Humans MeSH
- Magnetic Resonance Spectroscopy * methods MeSH
- Magnetic Resonance Imaging MeSH
- X-Linked Intellectual Disability diagnosis genetics metabolism MeSH
- Brain metabolism pathology MeSH
- Child, Preschool MeSH
- Nerve Tissue Proteins deficiency genetics MeSH
- Plasma Membrane Neurotransmitter Transport Proteins deficiency genetics MeSH
- Base Sequence MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- DNA Primers MeSH
- Creatine MeSH
- Nerve Tissue Proteins MeSH
- Plasma Membrane Neurotransmitter Transport Proteins MeSH
- SLC6A8 protein, human MeSH Browser
OBJECTIVE: Total creatine (tCr) constitutes one of the most prominent signals in human brain MR spectra. A significant decrease in the tCr signal indicates a severe disorder of creatine metabolism. We describe the potential of 1H MR spectroscopy in differential diagnosis of creatine transporter (SLC6A8) deficiency syndrome. MATERIALS AND METHODS: Two siblings, a 7-year-old female presenting with mild psychomotor delay, and a 5-year-old male with severe psychomotor retardation, epilepsy and autistic spectrum of problems including speech delay, underwent MR examination because of suspected creatine deficiency. After the MRI examination, 1H MR spectroscopy using the CSI technique was performed. RESULTS: Metabolic images of N-acetylaspartate, tCr and choline concentrations showed a very low tCr signal in the male, which was approximately three times lower than in his sister (male/female/controls: tCr=1.6/4.6/7.5 mM). Despite creatine supplementation, no improvement in clinical status and tCr concentration in the MR spectra of the male was observed and diagnosis of SLC6A8 deficiency was proposed. Sequence analysis of the SLC6A8 gene revealed a novel pathogenic frameshift mutation c.219delC; p.Asn74ThrfsX23, hemizygous in the male and heterozygous in the female. CONCLUSIONS: The diagnosis of X-linked mental retardation caused by the SLC6A8 deficiency can be independently established by 1H MR spectroscopy.
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Magn Reson Med. 2000 Sep;44(3):401-11 PubMed
J Pediatr. 1997 Oct;131(4):626-31 PubMed
MAGMA. 2000 Feb;10(1):6-17 PubMed
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Clin Chim Acta. 2005 Nov;361(1-2):1-9 PubMed
Magn Reson Imaging. 1997;15(9):1057-66 PubMed
Magn Reson Med. 1993 Dec;30(6):672-9 PubMed
Eur Radiol. 2005 Sep;15(9):1923-6 PubMed
NMR Biomed. 2005 Feb;18(1):14-8 PubMed
MAGMA. 2006 Feb;19(1):1-14 PubMed
Mol Cell Biochem. 2003 Feb;244(1-2):143-50 PubMed
Neuropediatrics. 2002 Oct;33(5):232-8 PubMed
Ann Neurol. 2001 Mar;49(3):401-4 PubMed
Ann Neurol. 2003 Feb;53(2):248-51 PubMed
Ann Neurol. 2002 Aug;52(2):227-31 PubMed
Acta Biochim Pol. 2004;51(4):875-82 PubMed
Neurogenetics. 2008 Jul;9(3):183-90 PubMed
Rev Neurol (Paris). 2005 Mar;161(3):284-9 PubMed
J Comput Assist Tomogr. 2003 Jan-Feb;27(1):44-7 PubMed
J Inherit Metab Dis. 2008 Apr;31(2):230-9 PubMed
J Inherit Metab Dis. 2003;26(2-3):309-18 PubMed
Mol Genet Metab. 2004 Jul;82(3):208-13 PubMed
Am J Hum Genet. 2001 Jun;68(6):1497-500 PubMed
