carnitine has been researched along with Neurofibromatosis 1 in 3 studies
Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
| Excerpt | Relevance | Reference |
|---|---|---|
| "Acylcarnitines were also affected, suggestive of a mitochondrial fatty acid oxidation disorder." | 1.56 | Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1). ( Houweling, PJ; Kaur, T; Little, DG; Roessner, U; Rupasinghe, T; Schindeler, A; Summers, MA; Vasiljevski, ER, 2020) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 2 (66.67) | 2.80 |
| Authors | Studies |
|---|---|
| Vasiljevski, ER | 3 |
| Houweling, PJ | 1 |
| Rupasinghe, T | 2 |
| Kaur, T | 1 |
| Summers, MA | 3 |
| Roessner, U | 2 |
| Little, DG | 3 |
| Schindeler, A | 3 |
| Burns, J | 1 |
| Bray, P | 1 |
| Donlevy, G | 1 |
| Mudge, AJ | 1 |
| Jones, KJ | 1 |
| Biggin, A | 1 |
| Munns, CF | 1 |
| McKay, MJ | 1 |
| Baldwin, JN | 1 |
| Evesson, FJ | 1 |
| Mikulec, K | 1 |
| Peacock, L | 1 |
| Quinlan, KG | 1 |
| Cooper, ST | 1 |
| Stevenson, DA | 1 |
1 trial available for carnitine and Neurofibromatosis 1
| Article | Year |
|---|---|
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.
Topics: Cardiomyopathies; Carnitine; Child; Dietary Supplements; Fatigue; Female; Humans; Hyperammonemia; Ma | 2021 |
2 other studies available for carnitine and Neurofibromatosis 1
| Article | Year |
|---|---|
Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1).
Topics: Animals; Carnitine; Dietary Supplements; Fatty Acids; Female; Lipid Metabolism; Mice; Muscle Strengt | 2020 |
Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
Topics: Adolescent; Adult; Animals; Carnitine; Child; Child, Preschool; Fatty Acids; Female; Humans; Lipid M | 2018 |