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Elevated circulating creatine concentration

MedGen UID:
1815053
Concept ID:
C5706147
Finding
HPO: HP:0034291

Definition

An elevation above the normal range of creatine in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating creatine concentration

Conditions with this feature

Autosomal dominant limb-girdle muscular dystrophy type 1F
MedGen UID:
333983
Concept ID:
C1842062
Disease or Syndrome
Autosomal dominant limb-girdle muscular dystrophy-2 (LGMDD2) is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. There is variability in presentation and progression. Some patients present in early childhood with mildly delayed walking and difficulty running and jumping, whereas others present as adults with mainly pelvic-girdle weakness. Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511).
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.

Recent clinical studies

Etiology

Rodríguez-Cruz M, Almeida-Becerril T, Atilano-Miguel S, Cárdenas-Conejo A, Bernabe-García M
Am J Phys Med Rehabil 2020 Dec;99(12):1121-1128. doi: 10.1097/PHM.0000000000001500. PMID: 32520799
Samarron SL, Miller JW, Cheung AT, Chen PC, Lin X, Zwerdling T, Wun T, Green R
Br J Haematol 2020 Aug;190(3):450-457. Epub 2020 Apr 19 doi: 10.1111/bjh.16618. PMID: 32307711Free PMC Article
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
D'Onofrio A, Russo V, Bianchi V, Cavallaro C, Leonardi S, De Vivo S, Vecchione F, Rago A, Ammendola E, Tavoletta V, Atripaldi L, Mocavero PE, Nigro G
Europace 2018 Sep 1;20(FI2):f233-f239. doi: 10.1093/europace/eux330. PMID: 29095967Free PMC Article
Carrera-Quintanar L, Funes L, Sánchez-Martos M, Martinez-Peinado P, Sempere JM, Pons A, Micol V, Roche E
J Physiol Biochem 2017 Nov;73(4):523-530. Epub 2017 Jul 20 doi: 10.1007/s13105-017-0575-z. PMID: 28730509

Diagnosis

Sarchioto M, Howe F, Dumitriu IE, Morgante F, Stern J, Edwards MJ, Martino D
Eur J Neurol 2021 Jun;28(6):1910-1921. Epub 2021 Apr 16 doi: 10.1111/ene.14837. PMID: 33768607
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
Ji X, Zhao L, Ji K, Zhao Y, Li W, Zhang R, Hou Y, Lu J, Yan C
Mol Neurobiol 2017 Dec;54(10):8110-8116. Epub 2016 Nov 26 doi: 10.1007/s12035-016-0283-7. PMID: 27889897
Liu X, Dong Y, Chen S, Zhang G, Zhang M, Gong Y, Li X
Cardiology 2015;132(4):233-41. doi: 10.1159/000437090. PMID: 26337652
Devaux Y, Vausort M, Goretti E, Nazarov PV, Azuaje F, Gilson G, Corsten MF, Schroen B, Lair ML, Heymans S, Wagner DR
Clin Chem 2012 Mar;58(3):559-67. Epub 2012 Jan 17 doi: 10.1373/clinchem.2011.173823. PMID: 22252325

Therapy

Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK
J Clin Invest 2021 Jan 19;131(2) doi: 10.1172/JCI136055. PMID: 33463549Free PMC Article
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
D'Onofrio A, Russo V, Bianchi V, Cavallaro C, Leonardi S, De Vivo S, Vecchione F, Rago A, Ammendola E, Tavoletta V, Atripaldi L, Mocavero PE, Nigro G
Europace 2018 Sep 1;20(FI2):f233-f239. doi: 10.1093/europace/eux330. PMID: 29095967Free PMC Article
Park KS, Sedlock DA, Navalta JW, Lee MG, Kim SH
Eur J Appl Physiol 2011 Sep;111(9):2349-57. Epub 2011 Mar 19 doi: 10.1007/s00421-011-1907-2. PMID: 21424274
van der Merwe J, Brooks NE, Myburgh KH
Clin J Sport Med 2009 Sep;19(5):399-404. doi: 10.1097/JSM.0b013e3181b8b52f. PMID: 19741313

Prognosis

Samarron SL, Miller JW, Cheung AT, Chen PC, Lin X, Zwerdling T, Wun T, Green R
Br J Haematol 2020 Aug;190(3):450-457. Epub 2020 Apr 19 doi: 10.1111/bjh.16618. PMID: 32307711Free PMC Article
D'Onofrio A, Russo V, Bianchi V, Cavallaro C, Leonardi S, De Vivo S, Vecchione F, Rago A, Ammendola E, Tavoletta V, Atripaldi L, Mocavero PE, Nigro G
Europace 2018 Sep 1;20(FI2):f233-f239. doi: 10.1093/europace/eux330. PMID: 29095967Free PMC Article
Liu X, Dong Y, Chen S, Zhang G, Zhang M, Gong Y, Li X
Cardiology 2015;132(4):233-41. doi: 10.1159/000437090. PMID: 26337652
Devaux Y, Vausort M, Goretti E, Nazarov PV, Azuaje F, Gilson G, Corsten MF, Schroen B, Lair ML, Heymans S, Wagner DR
Clin Chem 2012 Mar;58(3):559-67. Epub 2012 Jan 17 doi: 10.1373/clinchem.2011.173823. PMID: 22252325
Pedersen BK, Ostrowski K, Rohde T, Bruunsgaard H
Can J Physiol Pharmacol 1998 May;76(5):505-11. doi: 10.1139/cjpp-76-5-505. PMID: 9839076

Clinical prediction guides

Sarchioto M, Howe F, Dumitriu IE, Morgante F, Stern J, Edwards MJ, Martino D
Eur J Neurol 2021 Jun;28(6):1910-1921. Epub 2021 Apr 16 doi: 10.1111/ene.14837. PMID: 33768607
Samarron SL, Miller JW, Cheung AT, Chen PC, Lin X, Zwerdling T, Wun T, Green R
Br J Haematol 2020 Aug;190(3):450-457. Epub 2020 Apr 19 doi: 10.1111/bjh.16618. PMID: 32307711Free PMC Article
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
Mazzone AL, Baker RA, McNicholas K, Woodman RJ, Michael MZ, Gleadle JM
J Extra Corpor Technol 2018 Mar;50(1):19-29. PMID: 29559751Free PMC Article
Pedersen BK, Ostrowski K, Rohde T, Bruunsgaard H
Can J Physiol Pharmacol 1998 May;76(5):505-11. doi: 10.1139/cjpp-76-5-505. PMID: 9839076

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