Table 3.

Comparison of the clinical features among three subjects with NCPH in the absence of liver synthetic dysfunction and who harbor a recurrent recessive p.N46S mutation in DGUOK, and patients suffering from mtDNA depletion syndrome 3 (OMIM#251880) due to DGUOK deficiency.

	Patient 1	Patient 2A	Patient 2B	mtDNA depletion syndrome 3 (hepatocerebral type)*
Age at Presentation	12 yo	5 m	5 yo	infancy and early childhood
AST / ALT	WNL	WNL to 8x ULN	WNL	WNL to 20x ULN
Conjugated hyperbilirrubinemia	−	−	−	+
Coagulopathy	−	−	−	+
Cirrhosis / Liver failure	−	−	−	+
Portal hypertension findings in the absence of cirrhosis or liver failure	+1	+2	+3	−
Neurological impairment	−	−	−	+
Follow-up Time /Prognosis	6 y / stable with no liver or neurological dysfunction	16 y / stable with no liver or neurological dysfunction	6 y / stable with no liver or neurological dysfunction	N/A / poor prognosis due to progressive liver +/− neurological dysfunction

yo, years old; m, months; y, years; N/A, not applicable; WNL, within normal limit; ULN, upper limit of normal; +, present; -, absent. Phenotypic differences between the patients in our study with N46S recessive DGUOK mutation and the subjects with mtDNA depletion syndrome 3 (hepatocerebral type) associated with DGUOK deficiency are depicted by gray shading.

^*Phenotype OMIM number 251880.

¹Splenomegaly and small non-bleeding esophageal varices.

²Splenomegaly and large non-bleeding esophageal varices.

³Splenomegaly.