Wilson disease with hepatic presentation in an eight-month-old boy

Table 1 Biochemical test results and treatment at various stages

Age (mo)	ALT (Normal range 0-40 IU/L)	AST (Normal range 0-40 IU/L)	GGT (Normal range 7-50 IU/L)	TBA (Normal range 0-10 umol/L)	Ceruloplasmin (Normal range 0.21-0.53 g/L)	Treatment
8	247	193	ND	ND	ND
10	270	104	75	47.5	ND
11	350	185	ND	ND	0.079	zinc 30 mg/d
14	152	83	ND	ND	ND	zinc 60 mg/d
24	43	30	22	2.9	ND	zinc 60 mg/d
35	37	26	ND	ND	ND	zinc 60 mg/d

ALP: Alkaline phosphatase; ALT: Alaninaminotransferase; AST: Aspartate amino transferase; GGT: Gamma glutamyl transpeptidase; TBA: Total bile acid; ND: Not done.

Table 2 ATP7B gene sequencing results

Exons	Heterozygous mutation/allel(parental origin)	SNP number	Status on WD mutation database	Mutation taster prediction (score)
Exon2	c.1216T>G, p.S406A (ND)	rs1801243	Non disease causing	Polymorphism (99)
Exon3	c.1366G>C, p.V456L (ND)	rs1801244	Not found	Polymorphism (32)
Exon10	c.2495A>G, p.K832R (ND)	rs1061472	Non disease causing	Polymorphism (26)
Exon11	c.2621C>T, p.A874V (Mother)	rs121907994/CM980173	Disease causing	disease causing (64)
Exon12	c.2855G>A, p.R952K (ND)	rs732774	Not found	Polymorphism (26)
Exon16	c.3419T>C, p.V1140A (ND)	rs1801249	Not found	Polymorphism (64)
Exon18	c.3809A>G, p.N1270S (Father)	rs121907990/CM994116, CM930060	Disease causing	disease causing (46)
Intron	c.3903+6C>T (Mother)	rs2282057	Not found	Polymorphism

Wilson Disease Mutation Database (http://www.wilsondisease.med.ualberta.ca/database.asp); Mutation Taster (http://www.mutationtaster.org); ND: Parental sequencing not done.