TABLE 2.
Concentrations of 3‐hydroxyglutaric acid, 2‐hydroxyglutaric acid, and glutaric acid observed in urine specimens from patients with a confirmed diagnosis.
| Source of urine sample | Diagnosis and context | Age at sample collection | 3‐HG | 2‐HG | GA |
|---|---|---|---|---|---|
| mmol/mol creatinine | mmol/mol creatinine | mmol/mol creatinine | |||
| Patient 1 | GA1—at diagnosis a | 10 days | 69.1 (<7.5) | 37.9 (<53.8) | 340 (<13.5) |
| GA1—follow‐up b | 20 days | 46.0 (<7.5) | 44.4 (<53.8) | 40.8 (<13.5) | |
| GA1—follow‐up b | 5 months | 58.0 (<6.5) | 30.1 (<29.7) | 41.7 (<15.9) | |
| GA1—follow‐up b | 12 months | 32.3 (<6.5) | 29.9 (<29.7) | 47.1 (<15.9) | |
| Patient 2 | GA1—at diagnosis a | 15 days | 169 (<7.5) | 30.8 (<53.8) | 4023 (<13.5) |
| Patient 3 | GA1—at diagnosis a | 12 days | 43.9 (<7.5) | 35.2 (<53.8) | 30.8 (<13.5) |
| Patient 4 | GA1—at diagnosis a , c | 21 years | 22.1 (<2.6) | 9.8 (<6.8) | 57.0 (<2.6) |
| Patient 5 | GA1—follow‐up b | 25 years | 19.6 (<2.6) | 8.6 (<6.8) | 161 (<2.6) |
| Patient 6 | GA1—follow‐up b | 5 years | 10.6 (<6.4) | 12.8 (<15.6) | 1.7 (<3.8) |
| Patient 7 | GA1—follow‐up b | 17 months | 50.5 (<6.5) | 10.9 (<29.7) | 15.0 (<15.9) |
| Patient 8 | GA1—at diagnosis a | 2 months | 294 (<6.5) | 85.0 (<29.7) | 7023 (<15.9) |
| Patient 9 | GA1—at diagnosis a | 4 months | 611 (<6.5) | 56.8 (<29.7) | 7308 (<15.9) |
| Patient 10 | GA1—follow‐up b | 12 years | 75.5 (<2.6) | 9.4 (<6.8) | 2950 (<2.6) |
| Patient 11 | MADD—follow‐up b | 16 years | 3.0 (<2.6) | 23.8 (<6.8) | 1.0 (<2.6) |
| Patient 12 | d‐2‐Hydroxyglutaric aciduria d | 5 years | 5.8 (<6.4) | 638 (<15.6) | 3.2 (<3.8) |
| Patient 13 | 2‐Hydroxyglutaric aciduria d | 7 years | 3.9 (<6.4) | 1641 (<15.6) | 1.3 (<3.8) |
Note: Values less than 100 are shown to 1 decimal place. Laboratory reference values are shown in parentheses for each result. These reflect 95th percentile values of controls in each of the following age groups: 0–2 months; 2 months to 2 years; 2 years to 12 years; >12 years.
Abbreviations: GA, glutaric acid; GA1, glutaric aciduria type 1; 3‐HG, 3‐hydroxyglutaric acid; 2‐HG, 2‐hydroxyglutaric acid; MADD, multiple acyl‐CoA dehydrogenase deficiency.
First specimen received for diagnostic testing; presumably before initiation of any treatment.
Follow‐up specimen received for “monitoring,” in a context of treatment or management.
Incidental diagnosis of “maternal GA1,” following a positive newborn screen of an unaffected infant.
Specimen received from external proficiency scheme, presumably collected during patient follow‐up.