Table 3.
Positive earwax results in patients with amino acid defects
| Patient | Earwax arginino‐succinate % of total amino acids | Earwax arginino‐succinate μmol/mmol creatinine | Matching plasma arginino‐succinate μmol/mmol (normal non detectable) | |||
|---|---|---|---|---|---|---|
| ASALDa | 1.5 ↑ | 632 ↑ | 179 ↑ | |||
| ASALDb | 4.1 ↑ | 121 ↑ | 213 ↑ | |||
| Disease control range | 0‐0.11 | 0‐27 | ||||
| Earwax Allo‐isoleucine % of total amino acids | Earwax Allo‐isoleucine μmol/mmol creatinine | Matching plasma allo‐isoleucine μmol/L (normal <5 μmol/L)a | Matching plasma isoleucine μmol/L (normal 26‐100 μmol/L)a | Matching plasma leucine μmol/L (normal 65‐220 μmol/L)a | Matching plasma valine μmol/L (normal 90‐300 μmol/L)a | |
|---|---|---|---|---|---|---|
| BCKDDa | 0.12 | 16.6 | 17↑ | 98 | 74 | 102 |
| BCKDDb | 0.11 | 24.6 | 152↑↑ | 146↑ | 184 | 338↑ |
| BCKDDc | 0.58 ↑ | 96.7 ↑ | 223↑↑ | 210↑ | 117 | 319↑ |
| Disease control range | 0‐0.41 | 1.0‐94.7 |
a
In‐house established reference range.