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

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

	Patient^a	GALC mutations (simplified, allele1//allele2)^a	WBC GALC^a(nmol/h/mg)	psychosine^b (nmol/L)	Age at HSCT^a	HSCT Center^c	Outcome^a
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 KD^a	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)

^aSee articles on the NY state experience with KD NBS [5, 6] for more detailed information
^bPsychosine values reported separately by Escolar et al. [20]; assignment of psychosine values to appropriate infant performed by J. Orsini
^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”

ISSN: 1750-1172