Page last updated: 2024-10-17

creatine and Aprosodia

creatine has been researched along with Aprosodia in 20 studies

Research Excerpts

ExcerptRelevanceReference
"Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency."7.79Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( Comeaux, MS; Craigen, WJ; Kleppe, S; Renaud, D; Schmitt, ES; Sun, Q; Wang, G; Wang, J; Wong, LJ; Zhang, VW, 2013)
"Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases."6.49Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013)
"l-arginine:glycine amidinotransferase (AGAT) and its metabolites homoarginine (hArg) and creatine have been linked to stroke pathology in both human and mouse studies."3.96Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. ( Arunachalam, P; Choe, CU; Gelderblom, M; Gerloff, C; Jensen, M; Magnus, T; Müller, C; Schwedhelm, E; Zeller, T, 2020)
"Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities."3.85Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( Bodamer, O; Longo, N; Sharer, JD; Tortorelli, S; Wamelink, MM; Young, S, 2017)
"Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os."3.85Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. ( Alessandrì, MG; Battini, R; Casalini, C; Casarano, M; Cioni, G; Tosetti, M, 2017)
"Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency."3.79Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( Comeaux, MS; Craigen, WJ; Kleppe, S; Renaud, D; Schmitt, ES; Sun, Q; Wang, G; Wang, J; Wong, LJ; Zhang, VW, 2013)
" AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e."2.61Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency. ( Ostojic, SM, 2019)
"Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases."2.49Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013)
"Treatment with creatine monohydrate (100-800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy."1.42Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. ( Apatean, D; Battini, R; DeBrosse, S; Dessoffy, K; Dowling, MD; Edvardson, S; Eichler, F; Johnston, K; Koeller, DM; Nouioua, S; Stockler-Ipsiroglu, S; Tazir, M; Verma, A; Wierenga, AM; Wierenga, KJ; Wong, LJ; Zhang, V, 2015)
"Creatine (Cr) plays an important role in muscle energy homeostasis by its participation in the ATP-phosphocreatine phosphoryl exchange reaction mediated by creatine kinase."1.39Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake. ( Choe, CU; Heerschap, A; Isbrandt, D; Kan, HE; Kemp, GJ; Matschke, J; Nabuurs, CI; Rodenburg, RJ; van Loon, LJ; Veltien, A; Wieringa, B, 2013)

Research

Studies (20)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (5.00)29.6817
2010's14 (70.00)24.3611
2020's5 (25.00)2.80

Authors

AuthorsStudies
Balestrino, M1
Adriano, E1
Jensen, M1
Müller, C1
Schwedhelm, E2
Arunachalam, P1
Gelderblom, M1
Magnus, T1
Gerloff, C2
Zeller, T1
Choe, CU3
Neu, A1
Hornig, S1
Sasani, A1
Isbrandt, D3
Tsikas, D1
Alessandrì, MG2
Strigini, F1
Cioni, G3
Battini, R4
Branovets, J1
Karro, N1
Barsunova, K1
Laasmaa, M1
Lygate, CA1
Vendelin, M1
Birkedal, R1
Ostojic, SM1
Schulze, A2
Comeaux, MS1
Wang, J1
Wang, G1
Kleppe, S1
Zhang, VW1
Schmitt, ES1
Craigen, WJ1
Renaud, D1
Sun, Q1
Wong, LJ2
Nouioua, S2
Cheillan, D2
Zaouidi, S1
Salomons, GS1
Amedjout, N1
Kessaci, F1
Boulahdour, N1
Hamadouche, T1
Tazir, M2
Tran, C1
Yazdanpanah, M1
Kyriakopoulou, L1
Levandovskiy, V1
Zahid, H1
Naufer, A1
Clark, JF1
Cecil, KM1
Stockler-Ipsiroglu, S1
Apatean, D1
DeBrosse, S1
Dessoffy, K1
Edvardson, S1
Eichler, F1
Johnston, K1
Koeller, DM1
Verma, A1
Dowling, MD1
Wierenga, KJ1
Wierenga, AM1
Zhang, V1
Joncquel-Chevalier Curt, M1
Voicu, PM1
Fontaine, M1
Dessein, AF1
Porchet, N1
Mention-Mulliez, K1
Dobbelaere, D1
Soto-Ares, G1
Vamecq, J1
Hanna-El-Daher, L1
Braissant, O2
Sharer, JD1
Bodamer, O1
Longo, N1
Tortorelli, S1
Wamelink, MM1
Young, S1
Casalini, C1
Casarano, M1
Tosetti, M1
Nabuurs, CI1
Veltien, A1
Kan, HE1
van Loon, LJ1
Rodenburg, RJ1
Matschke, J1
Wieringa, B1
Kemp, GJ1
Heerschap, A1
Leuzzi, V1
Mastrangelo, M1
Snow, RJ1
Henry, H1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
The Effect of Creatine Monohydrate on Persistent Post-concussive Symptoms - a Pilot Study Protocol[NCT05562232]45 participants (Anticipated)Interventional2022-10-01Not yet recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

7 reviews available for creatine and Aprosodia

ArticleYear
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
    Nutritional neuroscience, 2019, Volume: 22, Issue:5

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Clinical Trials as Topic; Creatine; Devel

2019
Creatine deficiency syndromes.
    Handbook of clinical neurology, 2013, Volume: 113

    Topics: Child; Creatine; Developmental Disabilities; Humans; Intellectual Disability; Metabolism, Inborn Err

2013
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
    Pediatric research, 2015, Volume: 77, Issue:3

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati

2015
Creatine biosynthesis and transport in health and disease.
    Biochimie, 2015, Volume: 119

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP-

2015
Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
    Amino acids, 2016, Volume: 48, Issue:8

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Blood-Brain Barrier; Brain Disea

2016
Inborn errors of creatine metabolism and epilepsy.
    Epilepsia, 2013, Volume: 54, Issue:2

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inbor

2013
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:2

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Creatine; Developmental D

2008

Other Studies

13 other studies available for creatine and Aprosodia

ArticleYear
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.
    Amino acids, 2020, Volume: 52, Issue:4

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili

2020
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
    International journal of molecular sciences, 2020, Mar-09, Volume: 21, Issue:5

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Devel

2020
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
    Amino acids, 2020, Volume: 52, Issue:6-7

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili

2020
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report.
    BMC pregnancy and childbirth, 2020, Sep-03, Volume: 20, Issue:1

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Creatine; Developmental Disabilities; Fem

2020
Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency.
    American journal of physiology. Heart and circulatory physiology, 2021, 02-01, Volume: 320, Issue:2

    Topics: Adenosine Diphosphate; Adenylate Kinase; Amidinotransferases; Amino Acid Metabolism, Inborn Errors;

2021
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
    Molecular genetics and metabolism, 2013, Volume: 109, Issue:3

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati

2013
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
    Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:8

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain; Child; Creatine; Developmental Dis

2013
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2014, Sep-25, Volume: 436

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Liquid; Creatine

2014
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:4

    Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea

2015
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:2

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Clinic

2017
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
    Orphanet journal of rare diseases, 2017, 02-02, Volume: 12, Issue:1

    Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea

2017
Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
    The Journal of physiology, 2013, Jan-15, Volume: 591, Issue:2

    Topics: Adenosine Triphosphate; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine

2013
AGAT knockout mice provide an opportunity to titrate tissue creatine content.
    The Journal of physiology, 2013, Jan-15, Volume: 591, Issue:2

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili

2013