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. 2020 Jan 14;43(3):392–408. doi: 10.1002/jimd.12202

Table 1.

UDP‐hexoses studies in different patient cell lines

Cell line Reference GALT activity Measurement method UDP‐hexoses levels/ratiosb
Erythrocytes Ng et al6 Undetectable Enzyme‐based method Decreased UDP‐Gal levels

  • 35% of normal mean
0.2%‐2% Normal UDP‐Gal levels
Berry et al51 a Absent/markedly reduced HPLC
Decreased UDP‐Gal levels
  • Children: 62% of normal mean, 6/19 < 95% CI for normal
  • Adults: 46% of normal mean, 4/5 < 95% CI for normal
Higher UDP‐Glc to UDP‐Gal ratio
  • Children: 12/19 > 95% CI for normal
  • Adults: 4/5 > 95% CI for normal
Keevill et al52 Negligible HPLC
Decreased UDP‐Gal levels
  • 87% of normal mean

Higher UDP‐Glc to UDP‐Gal ratio
Gibson et al53 Absent/markedly reduced HPLC
Decreased UDP‐Gal levels
  • Children: 70% of normal mean, 10% < 2 SD of normal mean
  • Adults: 81% of normal mean
Higher UDP‐Glc to UDP‐Gal ratio
  • 65% of children >2SD of normal mean
  • 20% of adults >2 SD of normal mean
Xu et al54 Undetectable HPLC Decreased UDP‐Gal levels

  • 62% of normal meanHigher UDP‐Glc to UDP‐Gal ratio
0.05‐2.5 μmol/h/g Hb (normal >20)
Normal UDP‐Gal levels
  • 115% of normal mean

Normal UDP‐Glc/UDP‐Gal ratio
Lymphoblasts Gibson et al55 Unknown HPLC Normal UDP‐Gal levels

  • 108% of normal mean
Fibroblasts Ng et al6 Undetectable Enzyme‐based method

Decreased UDP‐Gal levels

36% of normal mean
0%‐0.2% Normal UDP‐Gal levels
Gibson et al55 Unknown HPLC
Normal UDP‐Gal levels
  • 95% of normal mean

Normal UDP‐Glc/UDP‐Gal ratio
Xu et al54 Undetectable HPLC Decreased UDP‐Gal levels

  • 55% of normal mean

    Higher UDP‐Glc to UDP‐Gal ratios
0.6‐7.8 μmol/h/g Hb (normal >50) Normal UDP‐Gal levels

  • 104% of normal mean

    Normal UDP‐Glc/UDP‐Gal ratio
SV40‐transformed fibroblasts Lai et al5 Undetectable Enzyme‐based method Decreased UDP‐Gal

  • 30% of normal mean

    Decreased UDP‐Glc

  • 67% of normal mean

    Higher UDP‐Glc/UDP‐Gal ratio

Abbreviations: CI, confidence intervals; HPLC, high‐performance liquid chromatography; UDP‐Gal, uridine diphosphate‐galactose, UDP‐Glc, uridine diphosphate‐glucose.

a

Absolute levels four times lower compared to values reported by Ng et al.6

b

In GALT‐deficient cell lines compared to cell lines from normal controls.