glutaric acid has been researched along with Giant Axonal Neuropathy in 1 studies
glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.
Giant Axonal Neuropathy: Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
| Excerpt | Relevance | Reference |
|---|---|---|
| "The cohort included patients with Leigh and Leigh-like syndrome (n = 25), other mitochondrial diseases (n = 25), Wilson disease (n = 40), Type 1 glutaric aciduria (n = 14), maple syrup urine disease (n = 13), giant axonal neuropathy (n = 5) and L-2 hydroxy glutaric aciduria (n = 3)." | 3.80 | Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome. ( Arvinda, HR; Bharath, MM; Bindu, PS; Gayathri, N; Govindaraju, C; Khan, NA; Nagappa, M; Ranjith, D; Sinha, S; Sonam, K; Taly, AB; Thangaraj, K, 2014) |
| 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 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bindu, PS | 1 |
| Taly, AB | 1 |
| Sonam, K | 1 |
| Govindaraju, C | 1 |
| Arvinda, HR | 1 |
| Gayathri, N | 1 |
| Bharath, MM | 1 |
| Ranjith, D | 1 |
| Nagappa, M | 1 |
| Sinha, S | 1 |
| Khan, NA | 1 |
| Thangaraj, K | 1 |
1 other study available for glutaric acid and Giant Axonal Neuropathy
| Article | Year |
|---|---|
Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.
Topics: Child; Cohort Studies; Diagnosis, Differential; Early Diagnosis; Female; Giant Axonal Neuropathy; Gl | 2014 |