carnitine has been researched along with Decreased Muscle Tone in 24 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Fraternal twins who had fasting hypoglycemia, hypoketonemia, muscle weakness, and hepatic dysfunction are reported." | 5.27 | Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. ( Bier, DM; Brown, BI; Dickie, M; Engel, AG; Glasgow, AM; Perry, LW; Todaro, J; Utter, MF, 1983) |
| "A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease." | 1.62 | COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1. ( Ahmadzada, S; Aktuglu-Zeybek, C; Kiykim, E; Yalcinkaya, C; Zubarioglu, T, 2021) |
| "Here, we describe an infant with severe Leigh syndrome, nephrotic syndrome, and CoQ(10) deficiency in muscle and fibroblasts and compound heterozygous mutations in the PDSS2 gene, which encodes a subunit of decaprenyl diphosphate synthase, the first enzyme of the CoQ(10) biosynthetic pathway." | 1.33 | Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. ( Dimauro, S; Hirano, M; Kanki, T; López, LC; Naini, A; Quinzii, CM; Rodenburg, RJ; Schuelke, M, 2006) |
| "Eventually, tyrosinemia type I was diagnosed." | 1.31 | Carnitine-deficient myopathy as a presentation of tyrosinemia type I. ( Ballin, A; Katzir, Z; Korman, SH; Lerman-Sagie, T; Levine, A; Nissenkorn, A; Vardi, O, 2001) |
| "Hypotonia was the initial symptom in four siblings from a nonconsanguineous Tunisian-Jewish family." | 1.28 | Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. ( Barash, V; Elpeleg, ON; Glick, B; Havkin, S; Jakobs, C; Shalev, RS, 1992) |
| "Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support." | 1.27 | Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin. ( Blom, W; Giesberts, MA; Mooy, PD; Przyrembel, H; Scholte, HR; van Gelderen, HH, 1984) |
| "Fraternal twins who had fasting hypoglycemia, hypoketonemia, muscle weakness, and hepatic dysfunction are reported." | 1.27 | Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. ( Bier, DM; Brown, BI; Dickie, M; Engel, AG; Glasgow, AM; Perry, LW; Todaro, J; Utter, MF, 1983) |
| "Carnitine treatment did not prevent the occurrence of an episode of metabolic decompensation." | 1.27 | Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementation. ( Beckeringh, TE; Duran, M; Ketting, D; Leupold, D; Wadman, SK, 1986) |
| "Of the nine patients with encephalopathy, eight showed improvement in their mental status." | 1.27 | Plasma carnitine deficiency. Clinical observations in 51 pediatric patients. ( Curry, CJ; Hogue, R; Hutchinson, HT; Shug, A; Szabo-Aczel, S; Winter, SC, 1987) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 13 (54.17) | 18.7374 |
| 1990's | 2 (8.33) | 18.2507 |
| 2000's | 7 (29.17) | 29.6817 |
| 2010's | 1 (4.17) | 24.3611 |
| 2020's | 1 (4.17) | 2.80 |
| Authors | Studies |
|---|---|
| Zubarioglu, T | 1 |
| Ahmadzada, S | 1 |
| Yalcinkaya, C | 1 |
| Kiykim, E | 1 |
| Aktuglu-Zeybek, C | 1 |
| Mahfoud, A | 1 |
| Domínguez, CL | 1 |
| Rashed, M | 1 |
| Durán, M | 2 |
| Rodríguez, T | 1 |
| Rodríguez, D | 1 |
| Landa, V | 1 |
| Rosa, M | 1 |
| Pascarella, A | 1 |
| Parenti, G | 1 |
| Buono, S | 1 |
| Romano, A | 1 |
| Della Casa, R | 1 |
| Andria, G | 1 |
| Marino, M | 1 |
| Riccio, MP | 1 |
| Bravaccio, C | 1 |
| Boles, RG | 1 |
| Fitzgerald, JF | 1 |
| Troncone, R | 1 |
| Roggero, P | 1 |
| Pozzi, E | 1 |
| Garavaglia, B | 1 |
| Parini, R | 1 |
| Carissimi, E | 1 |
| Santus, F | 1 |
| Piemontese, P | 1 |
| Cataliotti, E | 1 |
| Mosca, F | 1 |
| Carnelli, V | 1 |
| Kölker, S | 1 |
| Hoffmann, GF | 1 |
| Schor, DS | 1 |
| Feyh, P | 1 |
| Wagner, L | 1 |
| Jeffrey, I | 1 |
| Pourfarzam, M | 1 |
| Okun, JG | 1 |
| Zschocke, J | 1 |
| Baric, I | 1 |
| Bain, MD | 1 |
| Jakobs, C | 2 |
| Chalmers, RA | 1 |
| López, LC | 1 |
| Schuelke, M | 1 |
| Quinzii, CM | 1 |
| Kanki, T | 1 |
| Rodenburg, RJ | 1 |
| Naini, A | 1 |
| Dimauro, S | 1 |
| Hirano, M | 1 |
| Carrozzo, R | 1 |
| Dionisi-Vici, C | 1 |
| Steuerwald, U | 1 |
| Lucioli, S | 1 |
| Deodato, F | 1 |
| Di Giandomenico, S | 1 |
| Bertini, E | 1 |
| Franke, B | 1 |
| Kluijtmans, LA | 1 |
| Meschini, MC | 1 |
| Rizzo, C | 1 |
| Piemonte, F | 1 |
| Rodenburg, R | 1 |
| Santer, R | 1 |
| Santorelli, FM | 1 |
| van Rooij, A | 1 |
| Vermunt-de Koning, D | 1 |
| Morava, E | 1 |
| Wevers, RA | 1 |
| Mooy, PD | 1 |
| Przyrembel, H | 1 |
| Giesberts, MA | 1 |
| Scholte, HR | 1 |
| Blom, W | 1 |
| van Gelderen, HH | 2 |
| Glasgow, AM | 1 |
| Engel, AG | 1 |
| Bier, DM | 1 |
| Perry, LW | 1 |
| Dickie, M | 1 |
| Todaro, J | 1 |
| Brown, BI | 1 |
| Utter, MF | 1 |
| Nissenkorn, A | 1 |
| Korman, SH | 1 |
| Vardi, O | 1 |
| Levine, A | 1 |
| Katzir, Z | 1 |
| Ballin, A | 1 |
| Lerman-Sagie, T | 1 |
| Esiri, MM | 1 |
| Bower, BD | 1 |
| Ross, BD | 1 |
| Almog, C | 1 |
| Fried, K | 1 |
| Reif, R | 1 |
| Zieghelboim, J | 1 |
| Lewinsohn, G | 1 |
| Elpeleg, ON | 1 |
| Havkin, S | 1 |
| Barash, V | 2 |
| Glick, B | 1 |
| Shalev, RS | 1 |
| Cammann, R | 1 |
| Dunker, H | 1 |
| Schumacher, H | 1 |
| Ruitenbeek, W | 1 |
| Sperner, J | 1 |
| Rogerson, ME | 1 |
| Rylance, PB | 1 |
| Wilson, R | 1 |
| De Sousa, C | 1 |
| Lanigan, C | 1 |
| Rose, PE | 1 |
| Howard, J | 1 |
| Parsons, V | 1 |
| Kimura, S | 1 |
| Miyake, S | 1 |
| Ketting, D | 1 |
| Beckeringh, TE | 1 |
| Leupold, D | 1 |
| Wadman, SK | 1 |
| Künnert, B | 1 |
| Shahar, E | 1 |
| Brand, N | 1 |
| Shapira, Y | 1 |
| Gutman, A | 1 |
| Maaswinkel-Mooy, PD | 1 |
| Poorthuis, BJ | 1 |
| van de Kamp, JJ | 1 |
| Winter, SC | 1 |
| Szabo-Aczel, S | 1 |
| Curry, CJ | 1 |
| Hutchinson, HT | 1 |
| Hogue, R | 1 |
| Shug, A | 1 |
| Werneck, LC | 1 |
| Di Mauro, S | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect[NCT01793090] | Phase 2 | 30 participants (Actual) | Interventional | 2013-01-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for carnitine and Decreased Muscle Tone
| Article | Year |
|---|---|
[Carnitine deficiency and carnitine therapy].
Topics: Carnitine; Humans; Muscle Hypotonia | 1988 |
1 trial available for carnitine and Decreased Muscle Tone
| Article | Year |
|---|---|
Carnitine and weakness in haemodialysis patients.
Topics: Administration, Oral; Biopsy; Carnitine; Electromyography; Female; Humans; Isometric Contraction; Ki | 1989 |
22 other studies available for carnitine and Decreased Muscle Tone
| Article | Year |
|---|---|
COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Brain Diseases, Metabolic; Carnitine; C | 2021 |
[D-2-hydroxyglutaric aciduria. Report of two cases].
Topics: Anticonvulsants; Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Carnitine; Child, Preschool; Con | 2009 |
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
Topics: Acidosis; Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Carnitine; Child Development | 2012 |
Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Diet; Gastroenteritis; Hepatomegaly | 2002 |
Clinical quiz. Secondary carnitine deficiency due to celiac disease.
Topics: Carnitine; Celiac Disease; Glutens; Humans; Infant; Male; Motor Activity; Muscle Hypotonia; Muscles; | 2003 |
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.
Topics: Acidosis; Acute Disease; Adolescent; Anticonvulsants; Atrophy; Brain; Carnitine; DNA Mutational Anal | 2003 |
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
Topics: Alkyl and Aryl Transferases; Biotin; Carnitine; Case-Control Studies; Cells, Cultured; Coenzymes; Fi | 2006 |
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Topics: Atlantic Islands; Brain; Carnitine; Deafness; DNA Mutational Analysis; DNA, Mitochondrial; Family He | 2007 |
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.
Topics: Biopsy; Carnitine; Fatty Acid Desaturases; Glutarates; Humans; Hypoglycemia; Infant; Insulin; Male; | 1984 |
Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.
Topics: Cardiomyopathies; Carnitine; Dietary Fats; Diseases in Twins; Female; Humans; Hypoglycemia; Infant; | 1983 |
Carnitine-deficient myopathy as a presentation of tyrosinemia type I.
Topics: Carnitine; Child, Preschool; Diagnosis, Differential; Fanconi Syndrome; Humans; Male; Muscle Hypoton | 2001 |
Lipid-storage myopathies.
Topics: Adolescent; Adult; Carnitine; Child; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; M | 1978 |
Fatal lipid storage myopathy in an infant: case report and autopsy findings.
Topics: Biopsy; Carnitine; Humans; Infant; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Muscle H | 1979 |
Autosomal recessive lipid storage myopathy (probable carnitine deficiency).
Topics: Adolescent; Adult; Carnitine; Female; Genes, Recessive; Humans; Lipid Metabolism, Inborn Errors; Mic | 1979 |
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Topics: Carbon-Carbon Ligases; Carnitine; Child; Child, Preschool; Female; Humans; Ligases; Male; Muscle Hyp | 1992 |
[Myopathy with carnitine deficiency and lactic acidosis. A contribution to differential diagnosis of carnitine deficiency myopathies and mitochondrial myopathies].
Topics: Acidosis, Lactic; Biopsy; Carnitine; Child; Diagnosis, Differential; Humans; Lipid Metabolism, Inbor | 1992 |
Type II fiber myolysis in a patient with hypocarnitinemia.
Topics: Biopsy; Carnitine; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Intellectual Disabili | 1989 |
Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Chromatography, Paper; Humans; Infant, Newborn; Mal | 1986 |
Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.
Topics: Carnitine; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Female; Gene Expression R | 1988 |
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.
Topics: Carnitine; Dicarboxylic Acids; Glycogen Storage Disease; Glycogen Storage Disease Type IV; Humans; I | 1987 |
Plasma carnitine deficiency. Clinical observations in 51 pediatric patients.
Topics: Adolescent; Brain Diseases; Cardiomyopathies; Carnitine; Child; Child, Preschool; Failure to Thrive; | 1987 |
[Muscle carnitine deficiency: report of 8 cases with clinical, electromyographic, histochemical and biochemical studies].
Topics: Adult; Carnitine; Child, Preschool; Electromyography; Female; Humans; Infant; Infant, Newborn; Lipid | 1985 |