carnitine has been researched along with Peroxisomal Disorders in 7 studies
Peroxisomal Disorders: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5." | 7.85 | Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( Ferdinandusse, S; Herzog, K; van Lenthe, H; Vaz, FM; Wanders, RJA; Waterham, HR, 2017) |
| "Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5." | 3.85 | Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( Ferdinandusse, S; Herzog, K; van Lenthe, H; Vaz, FM; Wanders, RJA; Waterham, HR, 2017) |
| "The alpha-oxidation of phytanic acid and the beta-oxidation of pristanitc acid were investigated in cultured fibroblasts from controls and patients affected with different peroxisomal disorders using deuterated substrates." | 3.70 | Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis. ( Jakobs, C; Roe, CR; ten Brink, HJ; Verhoeven, NM; Wanders, RJ, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (14.29) | 18.2507 |
| 2000's | 4 (57.14) | 29.6817 |
| 2010's | 2 (28.57) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Herzog, K | 1 |
| van Lenthe, H | 1 |
| Wanders, RJA | 1 |
| Vaz, FM | 1 |
| Waterham, HR | 2 |
| Ferdinandusse, S | 2 |
| Duranti, G | 1 |
| Boenzi, S | 2 |
| Rizzo, C | 2 |
| Ravà, L | 1 |
| Di Ciommo, V | 1 |
| Carrozzo, R | 1 |
| Meschini, MC | 1 |
| Johnson, DW | 1 |
| Dionisi-Vici, C | 2 |
| Sandlers, Y | 1 |
| Moser, AB | 1 |
| Hubbard, WC | 1 |
| Kratz, LE | 1 |
| Jones, RO | 1 |
| Raymond, GV | 1 |
| Wanders, RJ | 3 |
| Duran, M | 1 |
| Caruso, U | 1 |
| Verhoeven, NM | 1 |
| Jakobs, C | 1 |
| ten Brink, HJ | 1 |
| Roe, CR | 1 |
| Vreken, P | 1 |
| Jansen, GA | 1 |
| van Roermund, CW | 1 |
| Van Grunsven, EG | 1 |
| Carpenter, KH | 1 |
| Wiley, V | 1 |
2 reviews available for carnitine and Peroxisomal Disorders
| Article | Year |
|---|---|
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Topics: Adenosine Triphosphate; Animals; Biological Transport; Carbon Dioxide; Carnitine; Carnitine O-Palmit | 2001 |
Application of tandem mass spectrometry to biochemical genetics and newborn screening.
Topics: Amino Acids; Carnitine; Genetic Testing; Humans; Infant, Newborn; Molecular Biology; Neonatal Screen | 2002 |
5 other studies available for carnitine and Peroxisomal Disorders
| Article | Year |
|---|---|
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
Topics: Carnitine; Cells, Cultured; Diterpenes; Fatty Acids; Humans; Oxidation-Reduction; Peroxisomal Disord | 2017 |
Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.
Topics: Carnitine; Female; Humans; Infant; Infant, Newborn; Male; Peroxisomal Disorders; Refsum Disease; Rep | 2008 |
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
Topics: Adrenoleukodystrophy; Carnitine; Chromatography, Liquid; Dried Blood Spot Testing; Humans; Infant, N | 2012 |
Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry.
Topics: Carnitine; Gas Chromatography-Mass Spectrometry; Humans; Mass Spectrometry; Peroxisomal Disorders; P | 2003 |
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.
Topics: Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Oxidation-Reduction; Peroxisomal Disor | 1998 |