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Table 3 Summary of previously reported data from NYa comparing IKD infants’ diagnostic results and outcomes to the 8 considered at high risk to develop KD (but who are asymptomatic to date)

From: Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

  Patienta GALC mutations (simplified, allele1//allele2)a WBC GALCa(nmol/h/mg) psychosineb
(nmol/L)
Age at HSCTa HSCT Centerc Outcomea
IKD 1 30kbDel//p.I546T + p.X670Qext*42 0.01 28.0 32 days A Alive, significant delays but interactive
2 30kbDel//30kbDel 0.05 32.2 31 days A Death
3 30kbDel//30kbDel 0.02 38.1 refused Death
4 30kbDel// p.G360Dfs*2 0.12 60 41 days B Alive, severe delays, minimally interactive
5 30kbDel//30kbDel 0.05 53.1 24 days B Death
High risk for KDa N = 8 Bi-allelic pathogenic GALC mutations Range: 0.03-0.12 Range: 0.21-2.7 Currently, all continue to do well and have had no symptoms requiring additional referrals (follow-up ranging from 1 to 9 years, J. Orsini, personal communication)
  1. aSee articles on the NY state experience with KD NBS [5, 6] for more detailed information
  2. bPsychosine values reported separately by Escolar et al. [20]; assignment of psychosine values to appropriate infant performed by J. Orsini
  3. cHSCT Center: “A” centers have 5 or more years or experience with HSCT in young children with inherited metabolic conditions, and they have transplanted at least one patient with presymptomatic IKD in 5 years. Other HSCT programs are labelled “B”