Table 1. MLD patient characteristics.
Patient | MLD Subtype | Age (years) | Sex | ARSA (nmol/hr/mg) | Urine Sulfatides (μg/mg creatinine) | MRI | Symptomatic |
---|---|---|---|---|---|---|---|
1 | LI | 2.3 | F | <1% of normal | 4 | abnormal | yes |
2 | LJ | 11.1 | F | 1.9 | 3 | abnormal | yes |
3 | Adult | 42.4 | M | “10% of normal” | “elevated” | abnormal | yes |
4 | Adult | 44.2 | F | 21.8 | 6.6 | abnormal | yes |
5 | Adult | 42.5 | F | “low” | 6.6 | abnormal | yes |
6 | EJ | 5.8 | F | 8.8 | 5.9 | abnormal | yes |
7 | LJ | 19.6 | M | 4.1 | “excessive” | abnormal | yes |
8 | EJ | 4.5 | M | “abnormally low* | “great excess” | abnormal | yes |
ARSA and urine sulfatide values or comments were taken from the official diagnostic laboratory report. MLD subtypes: late infantile (LI), late juvenile (LJ), early juvenile (EJ), late juvenile (LJ).