A significant fall in acyl carnitine
level (<10%-20%) manifests with above mentioned features.
The aim of this work was the assessment of free carnitine, total carnitine, acyl carnitine
and acylcarnitine/free carnitine ratio in serum and urine of children with cystic fibrosis.
Galloway, 2006) and cardiac muscle as either free or acyl carnitine
High Pressure Liquid Chromatography (HPLC) for orotic acid, HPLC for purine and pyrimidines, tandem mass spectrometry for carnitine - acyl carnitine and amino acids, gas chromatography-mass spectrometry (GC-MS) of urine for organic acids and liquid chromatography- mass spectrometry-mass spectrometry (LC-MS-MS) for amino acids were also performed to identify metabolic disorders, including those in carbohydrate, amino acids, fatty acid metabolism, urea cycle and organic acidemias.
###Carnitine/ acyl carnitine profile###Low level of free (11.5 umol/l), total (17umol/l)
L-carnitine (4-N-trimethyylammonium-3hydroxybutyric acid), stored within skeletal muscle tissue as either free or acyl carnitine
These intermediates are converted back to acyl-CoA on the inner mitochondrial membrane in reactions driven by acyl carnitine
translocase and carnitine acyl-transferase II (EC 126.96.36.199).
Prolonged fasting (>24 h), on the other hand, will cause an increase of acyl carnitine (10, 17, 22).
Differentiation of isomeric acyl carnitines using tandem mass spectrometry.
The 3 hydroxynonanoyl carnitine (3-hydroxy pelargonic acid carnitine) belongs to the family of acyl carnitines
and contains O-acylating carnitine.
Since that time, a high throughput LC/MSMS screening procedure suitable for use in state newborn screening laboratories has been developed and a method describing the combined extraction of the C26:0 lyso PC with that of the acyl carnitines
has been published.
(1) and the accompanying editorial (2) on the postmortem diagnosis of organic acid and fatty acid defects by analysis of acyl carnitines
in dried-blood-spot specimens and fully support the need for metabolic investigations in this situation.