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Reduced brain creatine level by MRS

MedGen UID:
1369880
Concept ID:
C4476570
Finding
Synonyms: Low brain creatine phosphate; Reduced brain creatine level by magnetic resonance spectroscopy
 
HPO: HP:0025051

Definition

A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced brain creatine level by MRS

Conditions with this feature

Deficiency of guanidinoacetate methyltransferase
MedGen UID:
154356
Concept ID:
C0574080
Disease or Syndrome
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.
Creatine transporter deficiency
MedGen UID:
337451
Concept ID:
C1845862
Disease or Syndrome
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.
Arginine:glycine amidinotransferase deficiency
MedGen UID:
436367
Concept ID:
C2675179
Disease or Syndrome
The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.

Professional guidelines

PubMed

Njau S, Joshi SH, Espinoza R, Leaver AM, Vasavada M, Marquina A, Woods RP, Narr KL
J Psychiatry Neurosci 2017 Jan;42(1):6-16. doi: 10.1503/jpn.150177. PMID: 27327561Free PMC Article
Yetkin MF, Mirza M, Dönmez H
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Stockler S, Schutz PW, Salomons GS
Subcell Biochem 2007;46:149-66. doi: 10.1007/978-1-4020-6486-9_8. PMID: 18652076

Recent clinical studies

Etiology

Huang M, Yu H, Cai X, Zhang Y, Pu W, Gao B
Sci Rep 2023 Aug 30;13(1):14241. doi: 10.1038/s41598-023-41569-5. PMID: 37648724Free PMC Article
Vakulin A, Green MA, D'Rozario AL, Stevens D, Openshaw H, Bartlett D, Wong K, McEvoy RD, Grunstein RR, Rae CD
J Sleep Res 2022 Apr;31(2):e13482. Epub 2021 Sep 15 doi: 10.1111/jsr.13482. PMID: 34528315
Ford TC, Downey LA, Simpson T, McPhee G, Oliver C, Stough C
Nutrients 2018 Dec 1;10(12) doi: 10.3390/nu10121860. PMID: 30513795Free PMC Article
Kroll JL, Steele AM, Pinkham AE, Choi C, Khan DA, Patel SV, Chen JR, Aslan S, Sherwood Brown E, Ritz T
Neuroimage Clin 2018;19:213-221. Epub 2018 Apr 12 doi: 10.1016/j.nicl.2018.04.012. PMID: 30035015Free PMC Article
Stockler S, Schutz PW, Salomons GS
Subcell Biochem 2007;46:149-66. doi: 10.1007/978-1-4020-6486-9_8. PMID: 18652076

Diagnosis

Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB
Mol Genet Metab 2023 Nov;140(3):107694. Epub 2023 Aug 30 doi: 10.1016/j.ymgme.2023.107694. PMID: 37708665
Yang YS, Smucny J, Zhang H, Maddock RJ
Neuroimage Clin 2023;39:103461. Epub 2023 Jun 27 doi: 10.1016/j.nicl.2023.103461. PMID: 37406595Free PMC Article
Hupfeld KE, Zöllner HJ, Oeltzschner G, Hyatt HW, Herrmann O, Gallegos J, Hui SCN, Harris AD, Edden RAE, Tsapkini K
Neurobiol Aging 2023 Feb;122:65-75. Epub 2022 Nov 17 doi: 10.1016/j.neurobiolaging.2022.11.006. PMID: 36508896Free PMC Article
Fernández-Vega N, Ramos-Rodriguez JR, Alfaro F, Barbancho MÁ, García-Casares N
Neuroradiology 2021 Sep;63(9):1395-1405. Epub 2021 Apr 13 doi: 10.1007/s00234-021-02704-z. PMID: 33851253
Piersson AD, Mohamad M, Rajab F, Suppiah S
Acad Radiol 2021 Oct;28(10):1447-1463. Epub 2020 Jul 7 doi: 10.1016/j.acra.2020.06.006. PMID: 32651050

Therapy

Thebault S, R Tessier D, Lee H, Bowman M, Bar-Or A, Arnold DL, L Atkins H, Tabard-Cossa V, Freedman MS
Neurol Neuroimmunol Neuroinflamm 2019 Sep;6(5):e598. Epub 2019 Aug 8 doi: 10.1212/NXI.0000000000000598. PMID: 31516913Free PMC Article
Ford TC, Downey LA, Simpson T, McPhee G, Oliver C, Stough C
Nutrients 2018 Dec 1;10(12) doi: 10.3390/nu10121860. PMID: 30513795Free PMC Article
Zhou L, Fan Y
Neurol Res 2015 Jul;37(7):633-7. Epub 2015 Feb 10 doi: 10.1179/1743132815Y.0000000011. PMID: 25668581
Moretti A, Gorini A, Villa RF
Mol Psychiatry 2003 Sep;8(9):773-85. doi: 10.1038/sj.mp.4001353. PMID: 12931205
Chang L, Cloak CC, Ernst T
J Clin Psychiatry 2003;64 Suppl 3:7-14. PMID: 12662128

Prognosis

Sheikh-Bahaei N
Methods Mol Biol 2024;2785:115-142. doi: 10.1007/978-1-0716-3774-6_9. PMID: 38427192
Hupfeld KE, Zöllner HJ, Oeltzschner G, Hyatt HW, Herrmann O, Gallegos J, Hui SCN, Harris AD, Edden RAE, Tsapkini K
Neurobiol Aging 2023 Feb;122:65-75. Epub 2022 Nov 17 doi: 10.1016/j.neurobiolaging.2022.11.006. PMID: 36508896Free PMC Article
Carlin D, Babourina-Brooks B, Davies NP, Wilson M, Peet AC
J Magn Reson Imaging 2019 Jan;49(1):195-203. Epub 2018 Apr 26 doi: 10.1002/jmri.26054. PMID: 29697883Free PMC Article
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
Zhou L, Fan Y
Neurol Res 2015 Jul;37(7):633-7. Epub 2015 Feb 10 doi: 10.1179/1743132815Y.0000000011. PMID: 25668581

Clinical prediction guides

Yang YS, Smucny J, Zhang H, Maddock RJ
Neuroimage Clin 2023;39:103461. Epub 2023 Jun 27 doi: 10.1016/j.nicl.2023.103461. PMID: 37406595Free PMC Article
Hupfeld KE, Zöllner HJ, Oeltzschner G, Hyatt HW, Herrmann O, Gallegos J, Hui SCN, Harris AD, Edden RAE, Tsapkini K
Neurobiol Aging 2023 Feb;122:65-75. Epub 2022 Nov 17 doi: 10.1016/j.neurobiolaging.2022.11.006. PMID: 36508896Free PMC Article
Jung C, Ichesco E, Ratai EM, Gonzalez RG, Burdo T, Loggia ML, Harris RE, Napadow V
Pain 2020 Jul;161(7):1555-1564. doi: 10.1097/j.pain.0000000000001815. PMID: 31990749Free PMC Article
Kroll JL, Steele AM, Pinkham AE, Choi C, Khan DA, Patel SV, Chen JR, Aslan S, Sherwood Brown E, Ritz T
Neuroimage Clin 2018;19:213-221. Epub 2018 Apr 12 doi: 10.1016/j.nicl.2018.04.012. PMID: 30035015Free PMC Article
Schranz AL, Manning KY, Dekaban GA, Fischer L, Jevremovic T, Blackney K, Barreira C, Doherty TJ, Fraser DD, Brown A, Holmes J, Menon RS, Bartha R
Hum Brain Mapp 2018 Apr;39(4):1489-1499. Epub 2017 Dec 21 doi: 10.1002/hbm.23919. PMID: 29271016Free PMC Article

Recent systematic reviews

Fernández-Vega N, Ramos-Rodriguez JR, Alfaro F, Barbancho MÁ, García-Casares N
Neuroradiology 2021 Sep;63(9):1395-1405. Epub 2021 Apr 13 doi: 10.1007/s00234-021-02704-z. PMID: 33851253
Piersson AD, Mohamad M, Rajab F, Suppiah S
Acad Radiol 2021 Oct;28(10):1447-1463. Epub 2020 Jul 7 doi: 10.1016/j.acra.2020.06.006. PMID: 32651050
Wada M, Mimura M, Noda Y, Takasu S, Plitman E, Honda M, Natsubori A, Ogyu K, Tarumi R, Graff-Guerrero A, Nakajima S
Neurosci Res 2019 May;142:16-29. Epub 2018 Mar 23 doi: 10.1016/j.neures.2018.03.005. PMID: 29580887
Wang H, Tan L, Wang HF, Liu Y, Yin RH, Wang WY, Chang XL, Jiang T, Yu JT
J Alzheimers Dis 2015;46(4):1049-70. doi: 10.3233/JAD-143225. PMID: 26402632

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