n-acetylphenylalanine has been researched along with Maple Syrup Urine Disease in 1 studies
N-acetylphenylalanine: RN given refers to (DL)-isomer
N-acetylphenylalanine : The N-acetyl derivative of phenylalanine.
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 |
|---|---|---|
| "Urinary organic acid profiles of patients with Maple Syrup Urine Disease (MSUD), hereditary tyrosinemia and phenylketonuria (PKU) have been studied by means of capillary GC-MS-computer technique." | 3.67 | Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism. ( Horn, L; Jellum, E; Kvittingen, EA; Stokke, O; Thoresen, O, 1986) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (100.00) | 18.7374 |
| 1990's | 0 (0.00) | 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 |
|---|---|
| Jellum, E | 1 |
| Horn, L | 1 |
| Thoresen, O | 1 |
| Kvittingen, EA | 1 |
| Stokke, O | 1 |
1 other study available for n-acetylphenylalanine and Maple Syrup Urine Disease
| Article | Year |
|---|---|
Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism.
Topics: Acetylation; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Gas Chromatography-M | 1986 |