Table 1.

Presentation of patients and mutations in PHKB gene (NM_000293.1) reported in the literature

Patient	Gender	Onset (year)	Ethnicity	Hypoglycemia	Hepatomegaly	Biochemical findings	Pathological findings	Mutation	Variant type	Development	Ref.
1 2a 3a	F M M	1.6 0.5 2.6	UK Ireland Ireland	Yes No No	No Yes Yes	NR NR NR	- Mild Liver dysfunction Slight Liver dysfunction	c.[555G > T] + [=],p.M185I c.[1257T > A]+[2336 + 965 A > C],p.Y419X c.[1257T > A]+[2336 + 965 A > C],p.Y419X	Missense Nonsense Nonsense	Normal Slightly hypotonic, speech poor Normal	[2]
1	M	2.10	German	No	Yes	NR	Slight Liver dysfunction	c.306-2 A > G	Deletion of exon 5	Normal	[3]
1 2 3 4 5	F M F M M	2.10 25 6 5 1.6	German Norway Dutch UK Israeli-Arab	Yes Just with exercise No No No	Yes Yes Yes Yes Yes	Elevated AST,ALT,TG NR Normal AST,ALT,TG NR NR	NR NR NR NR NR	c.1275dupA, p.N422KfsX c.1969 C > T p.Q657X c.1257T > A, p.Y419X c.2926G > T, p.E976X c.2896-1G > T, c.2896_2911del16 c.1285 C > T, p.R429X 7574-bp deletion of exon 8	Nonsense Nonsense Nonsense Nonsense Frame-shift deletion Nonsense Deletion of exon 8	hypoglycemic symptoms upon physical exercise Normal Normal Doll-face, abdominal extension (noted since early infancy) and muscle weakness, reduced muscle power and bulk A doll-face, mild generalized muscular hypotonia, but blood glucose and glucagon test normal	[6]
1	F	2.9	Dutch	Yes	Yes	Elevated AST, LDH, TG	No fibrosis	c.1827G > A, p.W609X IVS30− 1,g→t	Nonsense splice site	No hypotonia or muscle weakness	[7]
1 2 3	M M M	1.3 1.5 1.6	Canadian	No No No	Yes Yes Yes	Elevated AST,ALT Elevated AST,ALT Normal AST, ALT	NR NR NR	c.2839 C > T, p.Gln947X c.2839 C > T, p.Gln947X c.1106-2 A > G, p?	Nonsense Nonsense Split-site mu	Normal Short stature Normal	[8]
1 2 3	F M M	NR	French	No No No	Yes Yes Yes	Elevated AST,ALT Elevated AST,ALT Normal AST,ALT	Mild Liver dysfunction Slight Liver dysfunction Slight Liver dysfunction	c.1285 C > T, p.R429X c.573_577delGATTA, c.2427 + 3 A > G	Nonsense Deletion Missense	Normal Normal Normal	[9]
1	M	0.6	English	No	Yes	Normal AST,ALT	Splenomegaly, no liver biopsy	c.555G > T, p.Met185Ile c.574 A > G, p.Ile192Val	Missense Missense	Normal Normal	[10]
1	F	2	Iranian	Yes	Yes	Elevated AST,ALT, Chol	Cirrhosis	c.1127-2 A > G, p.? c.2840 A > G, p.Gln947Arg	Split site mu Missense	Short stature	Present report

^a Siblings

GSD glycogen storage disease; FTT failure to thrive; TG triglyceride; Chol cholesterol; BCR blood urea nitrogen (BUN)/creatinine ratio; Alb albumin; ALT alanine transaminase; AST aspartate transaminase