Table 1.

Clinical and biochemical profile of five newly diagnosed Lebanese WD Patients, homozygous for W939C mutation

	T3	T4	T5	B3	B8 (deceased)
Year of birth	1998	2001	2006	1992	2002
Age of symptoms onset	Asymptomatic	Asymptomatic	Asymptomatic	8	5
Age at diagnosis	7 (incidental)	8 (by screening)	3 (by screening)	13	5
GI manifestations	Asymptomatic transaminitis	Asymptomatic transaminitis	Asymptomatic transaminitis	At age 8: hepatosplenomegaly cirrhosis, ascites	Jaundice, abdominal distention hematemesis, shifting dullness, hepatomegaly
Neurological manifestations	None	None	None	Drooping of the jaw hypersalivation, slurred speech narrow-based gait, intention tremors	Hepatic encephalopathy
Kayser Fleischer ring	Absent	Absent	Absent	Present	Absent
Serum copper	5	6	9	2	72
Serum ceruloplasmin	<0.02	<0.02	<0.02	<0.0211	0.04
24-h-urine copper	77.6	20	41.5	744	Not done
Alkaline phosphatase	288	286	257	191	131
GGT	89	23	26	230	21
SGPT	248	152	59	25	74.1
SGOT	112	93	54	33	150
Bilirubin T/D	0.6/0.2	0.8/0.2	0.7/<0.1	0.8/0.3	38.06/21.44
PT/INR	12.9/1.10	13.2/1.10	11.4/1.00	14.3/1.2	>8.31/>120
Albumin	47	48	44	40	34.08
Globulin	29	31	21	26	20
Ultrasound of abdomen	Hepatomegaly echogenic liver	Increase in the liver echotexture, irregular contour, cirrhosis	Increase in the liver echotexture, irregular contour, cirrhosis	Hepatosplenomegaly (chronic liver disease or cirrhosis) Small amount of ascites	Mild-to-moderate ascites
MRI of brain	Normal	Normal	Not done	Bilateral symmetrical areas of abnormal signals in the putamen, thalami, caudate, midbrain, superior cerebellar hemispheres and dentate nuclei	Not done
Liver histopathology	Chronic liver disease, bridging fibrosis, macro-vesicular fatty changes	Fatty change portal fibrosis	Not done	Not done	Not done

Normal ranges of: Serum ceruloplasmin: 0.20–0.60 g/L; Serum Cu is 70–150 μg/dL; Urine Cu (μg/24 h): 15–50 μg/24 h