glutaric acid has been researched along with Maple Syrup Urine Disease in 3 studies
glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.
Maple Syrup Urine Disease: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
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) |
" Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (n=2), ornithine carbamoyltransferase deficiency (n=1), propionic acidaemia (n=1), isovaleric acidaemia (n=1), maple syrup urine disease (n=1) and glutaric acidemia type I (n=1) were tried with breastfeeding over two years." | 3.73 | Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. ( Baykal, T; Demir, F; Demirkol, M; Huner, G, 2005) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (33.33) | 18.2507 |
2000's | 1 (33.33) | 29.6817 |
2010's | 1 (33.33) | 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 |
Huner, G | 1 |
Baykal, T | 1 |
Demir, F | 1 |
Demirkol, M | 1 |
Morton, DH | 1 |
3 other studies available for glutaric acid and Maple Syrup Urine Disease
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 |
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Breast Feeding; Child, Preschool; Follow-Up Studies; Glutarate | 2005 |
Through my window--remarks at the 125th year celebration of Children's Hospital of Boston.
Topics: Adolescent; Boston; Child; Child, Preschool; Christianity; Fatty Acid Desaturases; Female; Glutarate | 1994 |