A significant fall in acyl carnitine
level (<10%-20%) manifests with above mentioned features.
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.
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
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 2.
Seven additional cases had acyl carnitine analyses that suggested the possibility of a fatty acid defect (see Table 1).
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.
Prolonged fasting (>24 h), on the other hand, will cause an increase of acyl carnitine
(10, 17, 22).
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.
7 ND (a) A longer retention time for the acyl carnitines
on the reverse-phase column correlates with a longer acyl chain length.