carnitine has been researched along with Tyrosinemias in 5 studies
Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Eventually, tyrosinemia type I was diagnosed." | 1.31 | Carnitine-deficient myopathy as a presentation of tyrosinemia type I. ( Ballin, A; Katzir, Z; Korman, SH; Lerman-Sagie, T; Levine, A; Nissenkorn, A; Vardi, O, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (60.00) | 29.6817 |
| 2010's | 2 (40.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Al-Dirbashi, OY | 1 |
| Fisher, L | 1 |
| McRoberts, C | 1 |
| Siriwardena, K | 1 |
| Geraghty, M | 1 |
| Chakraborty, P | 1 |
| Dhillon, KS | 1 |
| Bhandal, AS | 1 |
| Aznar, CP | 1 |
| Lorey, FW | 1 |
| Neogi, P | 1 |
| Turgeon, C | 1 |
| Magera, MJ | 1 |
| Allard, P | 1 |
| Tortorelli, S | 1 |
| Gavrilov, D | 1 |
| Oglesbee, D | 1 |
| Raymond, K | 1 |
| Rinaldo, P | 1 |
| Matern, D | 1 |
| Pass, KA | 1 |
| Morrissey, M | 1 |
| Nissenkorn, A | 1 |
| Korman, SH | 1 |
| Vardi, O | 1 |
| Levine, A | 1 |
| Katzir, Z | 1 |
| Ballin, A | 1 |
| Lerman-Sagie, T | 1 |
5 other studies available for carnitine and Tyrosinemias
| Article | Year |
|---|---|
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.
Topics: Amino Acids; Carnitine; Heptanoates; Humans; Infant, Newborn; Kidney Diseases; Liver Diseases; Neona | 2010 |
Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process.
Topics: Amino Acids; Carnitine; Chemical Fractionation; Cost-Benefit Analysis; Heptanoates; Humans; Hydrazon | 2011 |
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.
Topics: Amino Acids; Blood Specimen Collection; Carnitine; Flow Injection Analysis; Heptanoates; Humans; Inf | 2008 |
Enhancing newborn screening for tyrosinemia type I.
Topics: Amino Acids; Carnitine; Heptanoates; Humans; Infant, Newborn; Neonatal Screening; Tyrosinemias | 2008 |
Carnitine-deficient myopathy as a presentation of tyrosinemia type I.
Topics: Carnitine; Child, Preschool; Diagnosis, Differential; Fanconi Syndrome; Humans; Male; Muscle Hypoton | 2001 |