15 November 2022
: Case report 
Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment
Challenging differential diagnosis, Management of emergency care, Rare disease
Satsuki Yamamoto12AEF, Shun Yamashita
1AEF*, Toshihiko Kakiuchi 3AE, Kazuya Kurogi14AEF, Tomoyo M. Nishi1AEF, Masaki Tago 1AEF, Shu-ichi Yamashita1AEF
DOI: 10.12659/AJCR.937658
Am J Case Rep 2022; 23:e937658
Table 2. The results of blood amino acid analysis.
| Blood amino acid | Reference range | |
|---|---|---|
| Taurine | 54.5 | 39.5–93.2 |
| Aspartic acid | 4.1 | ≤2.4 |
| Hydroxyproline | ND | ≤21.6 |
| Threonine | 60.6 | 66.5–188.9 |
| Serine | 72.1 | 72.4–164.5 |
| Asparagine | 28.0 | 44.7–96.8 |
| Glutamic acid | 74.6 | 12.6–62.5 |
| Glutamine | 1149.1 | 422.1–703.8 |
| Sarcosine | ND | TR |
| α-Aminoadipic acid | TR | ND |
| Proline | 135.2 | 77.8–272.7 |
| Glycine | 145.2 | 151.0–351.0 |
| Alanine | 172.7 | 208.7–522.7 |
| Citrulline | 12.4 | 17.1–42.6 |
| α-Aminobutyric acid | 48.2 | 7.9–26.6 |
| Valine | 209.0 | 147.8–307.0 |
| Cystine | 19.5 | 13.7–28.3 |
| Cystathionine | ND | TR |
| Methionine | 29.1 | 18.9–40.5 |
| Isoleucine | 48.8 | 43.0–112.8 |
| Leucine | 86.7 | 76.6–171.3 |
| Tyrosine | 33.5 | 40.4–90.3 |
| Phenylalanine | 42.2 | 42.6–75.7 |
| γ-Aminoβ-hydroxybutyric acid | ND | ND |
| β-Alanine | TR | TR |
| β-Amino-iso-butyric acid | ND | TR |
| γ-Aminobutyric acid | ND | ND |
| Monoethanolamine | 6.2 | ≤10.4 |
| Homocystine | ND | ND |
| Histidine | 82.1 | 59.0–92.0 |
| 3-Methylhistidine | TR | ≤5.0 |
| 1-Methylhistidine | ND | ≤18.5 |
| Carnosine | ND | ND |
| Anserine | ND | ND |
| Tryptophan | 51.6 | 37.0–74.9 |
| Hydroxylysine | ND | ND |
| Ornithine | 22.4 | 31.3–104.7 |
| Lysine | 427.1 | 108.7–242.2 |
| Arginine | 26.8 | 53.6–133.6 |
| TR – trace level; ND – not detectable. | ||