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Serum amino acid and urinary organic acid profile.
| Plasma Amino Acid | Value | Urinary Organic Acid | Value |
|---|---|---|---|
| Cystine | ↑ | 3-hydroxyisovaleric acid | ↑↑ |
| Valine | ↑ | pyruvic acid | ↑↑ |
| Alpha alanine | N | 2-methyl-2,3-dihydroxybutyric | ↑ |
| Acyl-carnitine | N |
N: normal value; ↑: increased value, ↑↑: two times normal value.
