hydroxyproline has been researched along with Maple Syrup Urine Disease in 7 studies
Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ASCORBIC ACID can result in impaired hydroxyproline formation.
hydroxyproline : A proline derivative that is proline substituted by at least one hydroxy group.
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 |
|---|---|---|
| "Hydroxyprolinemia is an inborn error of amino acid degradation that is considered a non-disease." | 1.43 | Genetic cause and prevalence of hydroxyprolinemia. ( Fang-Hoffmann, J; Feyh, P; Gramer, G; Haack, TB; Hoffmann, GF; Kölker, S; Mayatepek, E; Okun, JG; Prokisch, H; Raga, DE; Sauer, S; Staufner, C; Terrile, C, 2016) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (71.43) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (14.29) | 29.6817 |
| 2010's | 1 (14.29) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Staufner, C | 1 |
| Haack, TB | 1 |
| Feyh, P | 1 |
| Gramer, G | 1 |
| Raga, DE | 1 |
| Terrile, C | 1 |
| Sauer, S | 1 |
| Okun, JG | 1 |
| Fang-Hoffmann, J | 1 |
| Mayatepek, E | 1 |
| Prokisch, H | 1 |
| Hoffmann, GF | 1 |
| Kölker, S | 1 |
| Fingerhut, R | 1 |
| EFRON, ML | 2 |
| YOUNG, D | 1 |
| MOSER, HW | 1 |
| MACCREADY, RA | 1 |
| Wellner, D | 1 |
| Meister, A | 1 |
| Frimpter, GW | 1 |
| Ampola, MG | 1 |
| Menne, F | 1 |
4 reviews available for hydroxyproline and Maple Syrup Urine Disease
| Article | Year |
|---|---|
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport | 1981 |
Aminoacidurias due to inherited disorders of metabolism. 2.
Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; | 1973 |
The aminoacidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; H | 1967 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi | 1968 |
3 other studies available for hydroxyproline and Maple Syrup Urine Disease
| Article | Year |
|---|---|
Genetic cause and prevalence of hydroxyprolinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Germany; Heterozygote; Homozy | 2016 |
Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.
Topics: Humans; Hydroxyproline; Infant, Newborn; Isoleucine; Maple Syrup Urine Disease; Neonatal Screening; | 2009 |
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulli | 1964 |