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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

Feistritzer HJ, Reinstadler SJ, Klug G, Reindl M, Wöhrer S, Brenner C, Mayr A, Mair J, Metzler B
BMC Cardiovasc Disord 2016 Nov 28;16(1):239. doi: 10.1186/s12872-016-0415-z. PMID: 27894261Free PMC Article
Deftereos S, Giannopoulos G, Angelidis C, Alexopoulos N, Filippatos G, Papoutsidakis N, Sianos G, Goudevenos J, Alexopoulos D, Pyrgakis V, Cleman MW, Manolis AS, Tousoulis D, Lekakis J
Circulation 2015 Oct 13;132(15):1395-403. Epub 2015 Aug 11 doi: 10.1161/CIRCULATIONAHA.115.017611. PMID: 26265659
El Khoury C, Dubien PY, Mercier C, Belle L, Debaty G, Capel O, Perret T, Savary D, Serre P, Bonnefoy E; AGIR-2 Investigators
Arch Cardiovasc Dis 2010 May;103(5):285-92. Epub 2010 Jun 17 doi: 10.1016/j.acvd.2010.04.005. PMID: 20619238
Yao DK, Jia SQ, Wang L, Li HW, Zhang YC, Wang YL, Wang LX
Eur J Intern Med 2009 Mar;20(2):152-7. Epub 2008 Jul 21 doi: 10.1016/j.ejim.2008.06.007. PMID: 19327603
Costa MA, Carere RG, Lichtenstein SV, Foley DP, de Valk V, Lindenboom W, Roose PC, van Geldorp TR, Macaya C, Castanon JL, Fernandez-Avilèz F, Gonzáles JH, Heyer G, Unger F, Serruys PW
Circulation 2001 Nov 27;104(22):2689-93. doi: 10.1161/hc4701.099789. PMID: 11723020

Diagnosis

Uedono H, Kurajoh M, Toi N, Tsuda A, Shinmaru K, Miki Y, Nakatani S, Nagata Y, Morioka T, Mori K, Imanishi Y, Emoto M
Am J Hypertens 2024 Sep 16;37(10):801-809. doi: 10.1093/ajh/hpae071. PMID: 38776410
Feistritzer HJ, Reinstadler SJ, Klug G, Reindl M, Wöhrer S, Brenner C, Mayr A, Mair J, Metzler B
BMC Cardiovasc Disord 2016 Nov 28;16(1):239. doi: 10.1186/s12872-016-0415-z. PMID: 27894261Free PMC Article
Laterza OF, Nayer H, Jo Bill M, Sokoll LJ
Clin Chim Acta 2003 Nov;337(1-2):173-6. doi: 10.1016/j.cccn.2003.08.003. PMID: 14568196
Chang CP, Chia RH, Wu TL, Tsao KC, Sun CF, Wu JT
Clin Chim Acta 2003 Jan;327(1-2):95-101. doi: 10.1016/s0009-8981(02)00337-6. PMID: 12482623
Costa MA, Carere RG, Lichtenstein SV, Foley DP, de Valk V, Lindenboom W, Roose PC, van Geldorp TR, Macaya C, Castanon JL, Fernandez-Avilèz F, Gonzáles JH, Heyer G, Unger F, Serruys PW
Circulation 2001 Nov 27;104(22):2689-93. doi: 10.1161/hc4701.099789. PMID: 11723020

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
Deftereos S, Giannopoulos G, Angelidis C, Alexopoulos N, Filippatos G, Papoutsidakis N, Sianos G, Goudevenos J, Alexopoulos D, Pyrgakis V, Cleman MW, Manolis AS, Tousoulis D, Lekakis J
Circulation 2015 Oct 13;132(15):1395-403. Epub 2015 Aug 11 doi: 10.1161/CIRCULATIONAHA.115.017611. PMID: 26265659
El Khoury C, Dubien PY, Mercier C, Belle L, Debaty G, Capel O, Perret T, Savary D, Serre P, Bonnefoy E; AGIR-2 Investigators
Arch Cardiovasc Dis 2010 May;103(5):285-92. Epub 2010 Jun 17 doi: 10.1016/j.acvd.2010.04.005. PMID: 20619238
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
Yao DK, Jia SQ, Wang L, Li HW, Zhang YC, Wang YL, Wang LX
Eur J Intern Med 2009 Mar;20(2):152-7. Epub 2008 Jul 21 doi: 10.1016/j.ejim.2008.06.007. PMID: 19327603

Prognosis

Zemmour H, Planer D, Magenheim J, Moss J, Neiman D, Gilon D, Korach A, Glaser B, Shemer R, Landesberg G, Dor Y
Nat Commun 2018 Apr 24;9(1):1443. doi: 10.1038/s41467-018-03961-y. PMID: 29691397Free PMC Article
Feistritzer HJ, Reinstadler SJ, Klug G, Reindl M, Wöhrer S, Brenner C, Mayr A, Mair J, Metzler B
BMC Cardiovasc Disord 2016 Nov 28;16(1):239. doi: 10.1186/s12872-016-0415-z. PMID: 27894261Free PMC Article
Deftereos S, Giannopoulos G, Angelidis C, Alexopoulos N, Filippatos G, Papoutsidakis N, Sianos G, Goudevenos J, Alexopoulos D, Pyrgakis V, Cleman MW, Manolis AS, Tousoulis D, Lekakis J
Circulation 2015 Oct 13;132(15):1395-403. Epub 2015 Aug 11 doi: 10.1161/CIRCULATIONAHA.115.017611. PMID: 26265659
Costa MA, Carere RG, Lichtenstein SV, Foley DP, de Valk V, Lindenboom W, Roose PC, van Geldorp TR, Macaya C, Castanon JL, Fernandez-Avilèz F, Gonzáles JH, Heyer G, Unger F, Serruys PW
Circulation 2001 Nov 27;104(22):2689-93. doi: 10.1161/hc4701.099789. PMID: 11723020
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

Uedono H, Kurajoh M, Toi N, Tsuda A, Shinmaru K, Miki Y, Nakatani S, Nagata Y, Morioka T, Mori K, Imanishi Y, Emoto M
Am J Hypertens 2024 Sep 16;37(10):801-809. doi: 10.1093/ajh/hpae071. PMID: 38776410
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
Zemmour H, Planer D, Magenheim J, Moss J, Neiman D, Gilon D, Korach A, Glaser B, Shemer R, Landesberg G, Dor Y
Nat Commun 2018 Apr 24;9(1):1443. doi: 10.1038/s41467-018-03961-y. PMID: 29691397Free PMC Article
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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