Table 1.

Clinical presentation of patients with DGUOK mutation

	P1	P2	P3	Total
Consanguinity	+	+	+	3/3
Sex	M	F	M	2M/1F
Age at onset (days)	1	2	3	(1–3)
Age death (months)	5.5*	2*		(2–5.5)
Liver symptoms
Hepatomegaly	+	+	−	2/3
Jaundice	+	+	+	3/3
Hypoglycaemia	+	+	+	3/3
Ascites	+	−	−	1/3
Neurologic symptoms
Hypotonia	−	+	+	2/3
Nystagmus	+	+	+	3/3
Other symptoms
Feeding difficulties	+	+	+	3/3
Failure to thrive	+	+	+	3/3
Renal tubulopathy	−	+	−	1/3

F, female; M, male; P1, patient 1; P2, patient 2; P3, patient 3.

+, present; −, absent.

*Death.