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Abnormal brain lactate level by MRS

MedGen UID:
1369712
Concept ID:
C4476564
Finding
Synonym: Abnormal lactate level by magnetic resonance spectroscopy
 
HPO: HP:0025045

Definition

A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). [from HPO]

Conditions with this feature

COG8-congenital disorder of glycosylation
MedGen UID:
409971
Concept ID:
C1970021
Disease or Syndrome
Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.

Professional guidelines

PubMed

Yu A, Li K, Li H
Eur J Radiol 2006 Aug;59(2):216-21. doi: 10.1016/j.ejrad.2006.03.001. PMID: 16769190

Recent clinical studies

Etiology

Stein A, Zhu C, Du F, Öngür D
Curr Psychiatry Rep 2023 Nov;25(11):659-669. Epub 2023 Oct 9 doi: 10.1007/s11920-023-01457-1. PMID: 37812338
Wang R, Hu B, Sun C, Geng D, Lin J, Li Y
Mitochondrion 2021 Jul;59:276-282. Epub 2021 Jun 27 doi: 10.1016/j.mito.2021.06.012. PMID: 34186261
Gertsvolf N, Votava-Smith JK, Ceschin R, Del Castillo S, Lee V, Lai HA, Bluml S, Paquette L, Panigrahy A
Sci Rep 2018 Sep 19;8(1):14057. doi: 10.1038/s41598-018-32288-3. PMID: 30232359Free PMC Article
José da Rocha A, Túlio Braga F, Carlos Martins Maia A Jr, Jorge da Silva C, Toyama C, Pereira Pinto Gama H, Kok F, Rodrigues Gomes H
J Neuroimaging 2008 Jan;18(1):1-8. doi: 10.1111/j.1552-6569.2007.00205.x. PMID: 18190488
Makoroff KL, Cecil KM, Care M, Ball WS Jr
Pediatr Radiol 2005 Jul;35(7):668-76. Epub 2005 Apr 14 doi: 10.1007/s00247-005-1441-7. PMID: 15830194

Diagnosis

Rowland LM, Pradhan S, Korenic S, Wijtenburg SA, Hong LE, Edden RA, Barker PB
Transl Psychiatry 2016 Nov 29;6(11):e967. doi: 10.1038/tp.2016.239. PMID: 27898072Free PMC Article
Delonlay P, Rötig A, Sarnat HB
Handb Clin Neurol 2013;113:1651-66. doi: 10.1016/B978-0-444-59565-2.00033-2. PMID: 23622386
Chi CS, Lee HF, Tsai CR, Chen WS, Tung JN, Hung HC
J Chin Med Assoc 2011 Jul;74(7):305-9. Epub 2011 Jul 7 doi: 10.1016/j.jcma.2011.05.006. PMID: 21783095
José da Rocha A, Túlio Braga F, Carlos Martins Maia A Jr, Jorge da Silva C, Toyama C, Pereira Pinto Gama H, Kok F, Rodrigues Gomes H
J Neuroimaging 2008 Jan;18(1):1-8. doi: 10.1111/j.1552-6569.2007.00205.x. PMID: 18190488
Yu A, Li K, Li H
Eur J Radiol 2006 Aug;59(2):216-21. doi: 10.1016/j.ejrad.2006.03.001. PMID: 16769190

Therapy

Stein A, Zhu C, Du F, Öngür D
Curr Psychiatry Rep 2023 Nov;25(11):659-669. Epub 2023 Oct 9 doi: 10.1007/s11920-023-01457-1. PMID: 37812338
Möller HE, Wiedermann D, Kurlemann G, Hilbich T, Schuierer G
Muscle Nerve 2002 Apr;25(4):593-600. doi: 10.1002/mus.10084. PMID: 11932978
Grachev ID, Swarnkar A, Szeverenyi NM, Ramachandran TS, Apkarian AV
J Neurochem 2001 Apr;77(1):292-303. doi: 10.1046/j.1471-4159.2001.t01-1-00238.x. PMID: 11279285
Nakamura S, Yoshinari M, Wakisaka M, Kodera H, Doi Y, Yoshizumi H, Asano T, Iwase M, Mihara F, Fujishima M
Diabetes Metab 2000 Nov;26(5):407-10. PMID: 11119021
Rubio-Gozalbo ME, Heerschap A, Trijbels JM, De Meirleir L, Thijssen HO, Smeitink JA
Magn Reson Imaging 1999 Jul;17(6):939-44. doi: 10.1016/s0730-725x(99)00002-8. PMID: 10402601

Prognosis

Stein A, Zhu C, Du F, Öngür D
Curr Psychiatry Rep 2023 Nov;25(11):659-669. Epub 2023 Oct 9 doi: 10.1007/s11920-023-01457-1. PMID: 37812338
Gertsvolf N, Votava-Smith JK, Ceschin R, Del Castillo S, Lee V, Lai HA, Bluml S, Paquette L, Panigrahy A
Sci Rep 2018 Sep 19;8(1):14057. doi: 10.1038/s41598-018-32288-3. PMID: 30232359Free PMC Article
Emir UE, Larkin SJ, de Pennington N, Voets N, Plaha P, Stacey R, Al-Qahtani K, Mccullagh J, Schofield CJ, Clare S, Jezzard P, Cadoux-Hudson T, Ansorge O
Cancer Res 2016 Jan 1;76(1):43-9. Epub 2015 Dec 15 doi: 10.1158/0008-5472.CAN-15-0934. PMID: 26669865Free PMC Article
Makoroff KL, Cecil KM, Care M, Ball WS Jr
Pediatr Radiol 2005 Jul;35(7):668-76. Epub 2005 Apr 14 doi: 10.1007/s00247-005-1441-7. PMID: 15830194
Cox IJ
Prog Biophys Mol Biol 1996;65(1-2):45-81. doi: 10.1016/s0079-6107(96)00006-5. PMID: 9029941

Clinical prediction guides

Gertsvolf N, Votava-Smith JK, Ceschin R, Del Castillo S, Lee V, Lai HA, Bluml S, Paquette L, Panigrahy A
Sci Rep 2018 Sep 19;8(1):14057. doi: 10.1038/s41598-018-32288-3. PMID: 30232359Free PMC Article
Rowland LM, Pradhan S, Korenic S, Wijtenburg SA, Hong LE, Edden RA, Barker PB
Transl Psychiatry 2016 Nov 29;6(11):e967. doi: 10.1038/tp.2016.239. PMID: 27898072Free PMC Article
Reyngoudt H, Achten E, Paemeleire K
Cephalalgia 2012 Aug;32(11):845-59. Epub 2012 Jul 4 doi: 10.1177/0333102412452048. PMID: 22763498
Makoroff KL, Cecil KM, Care M, Ball WS Jr
Pediatr Radiol 2005 Jul;35(7):668-76. Epub 2005 Apr 14 doi: 10.1007/s00247-005-1441-7. PMID: 15830194
Cox IJ
Prog Biophys Mol Biol 1996;65(1-2):45-81. doi: 10.1016/s0079-6107(96)00006-5. PMID: 9029941

Recent systematic reviews

Dogan AE, Yuksel C, Du F, Chouinard VA, Öngür D
Neuropsychopharmacology 2018 Jul;43(8):1681-1690. Epub 2018 Mar 14 doi: 10.1038/s41386-018-0041-9. PMID: 29581538Free PMC Article

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