adenine has been researched along with Maple Syrup Urine Disease in 1 studies
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)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (100.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Matsuda, I | 1 |
| Nobukuni, Y | 1 |
| Mitsubuchi, H | 1 |
| Indo, Y | 1 |
| Endo, F | 1 |
| Asaka, J | 1 |
| Harada, A | 1 |
1 other study available for adenine and Maple Syrup Urine Disease
| Article | Year |
|---|---|
A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Adenine; Alleles; Amino Acid Sequence; Animals; B | 1990 |