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Table 4 Change in liver volume and liver enzymes in patient SEQ8

From: Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

Age at Liver MRI Treatment IV, IT HPβCD Liver volume (cm3) Liver volume/ body weight (cm3/kg) Normal range liver volume/body weight (cm3/kg) [72] AST (U/L) RR 15–46 ALT (U/L) RR 3–35 GGT (U/L) RR 5–55 AP (U/L) RR 80–270
1 year 9 months, Baseline Pre-IV 772 91.4 28.56 +/−5.4 (1 year, 6 months) 88 37 116 274
2 years 2 months Continued IV, pre-IT 767 71.1 31.83 +/− 5.9 (3 years 4 months) 75 28 102 189
2 years 9 months IV/IT 699 58.5 31.83 +/− 5.9 (3 years 4 months) 41 28 77 171
3 years 9 months IV/IT 777 49.8 31.83 +/− 5.9 (3 years 4 months) 40 36 < 10 159
4 years 11 months IV/IT 812 47.5 31.83 +/− 5.9 (3 years 4 months) 41 37 113 169
  1. Absolute volumetric liver measurements are shown with respect to age and timing of either IV, or sequential IV + IT treatment. A marked decrease in liver size relative to weight and expected volume by age [72] is seen following initiation of IV treatment and continues to decrease with sequential treatment. Liver enzymes show variability at baseline though AST decreases from twice upper limit of normal to a normal range to normal following 1 year of treatment
  2. MRI magnetic resonance imaging, IV intravenous, IT intrathecal, AST aspartate aminotransferase, ALT alanine aminotransferase, GGT gamma-glutamyl transpeptidase, AP alkaline phosphatase, U/L units per liter, RR reference range