Table 6: Amino acids, Organic acids, Fatty acids Disorders (Tandem Mass Spectrometry).
Decreased Level | Frequency | % | |
Organic acid | Acetylcarnitine (C2) | 19 | 38 |
Free Carnitine (C0) | 1 | 2 | |
Propionylcarnitine (C3) | 1 | 2 | |
Fatty acid | Octadecanoylcarnitine (C18) | 12 | 24 |
Palmitoylcarnitine (C16) | 1 | 2 | |
Myristiylcarnitine (C14) | 1 | 2 | |
Total | 35 | 70 | |
Increased level | |||
Amino acid | Glycine | 7 | 14 |
Leucine | 1 | 2 | |
Phenylalanine | 1 | 2 | |
Total | 9 | 18 | |
Enzyme | Biotinidase deficiency | 2 | 4 |