Table 1.

The clinical and biochemical data of WD patients

-	Family 1		Family 2		Family 3	Family 4	Family 5
Patient ID	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Sex	M	F	F	F	F	F	M
Consanguinity	+	+	+	+	+	+	+
Family history	+	+	+	+	+	+	+
Age at last examination	4 months	2 months and half	2 months	6 months	3 months	2 months	4 months
Weight (kg)/SD	4.5/ − 3.53SD	5.9/ − 0.5SD	3/ − 2.9SD	6/ − 1.75SD	3.5/ − 3.5SD	3/ − 2.5SD	4/ − 4.1SD
Head circumference (cm)/SD	40	38.5	39/0.2SD	40.2/ − 1.6SD	36/ − 2.4SD	35/ − 0.3SD	40.5/ − 0.3SD
	− 1.46SD	− 0.5SD
Height (cm)/SD	61/ − 0.87	59/ − 0.5SD	58/0.16SD	62/ − 1.35SD	56/ − 1.4SD	55/0.5SD	60/ − 0.9
Motor development	No head support	Motor regression	Motor regression	Motor regression	No head support	No head	No head
Mental development	Alert	Alert	Alert	Regression	Regression	Support	Support
Onset of symptoms	2 months	2 months	1 month	1 month	1 month	1 month	1 month
Clinical presentation	GIT	GIT	GIT	GIT	GIT	GIT	GIT
GIT symptoms	Severe	Severe	Severe	Severe	Severe	Severe	Severe
Diarrhea	+	+	+	+	+	+	+
Vomiting	+	+	+	+	+	+	+
Steatorrhea	+	+	+	+	+	+	+
Abdominal distention	+	+	+	+	+	+	+
FTT	+	+	+	+	+	+	+
Facies	Coarse	Coarse	Coarse	Coarse	Senile	Coarse	Coarse
Hepatomegaly	+	+	+	+	+	+	+
LCF manifestations	Ascites	Ascites	Ascites	Ascites	+	+	+
Splenomegaly	+	+	+	+	+	+	+
Hypersplenism (CBC)	Anemia	Anemia	Anemia	Anemia	Anemia	Anemia	Anemia
	6 mg/dl	5 mg/dl	4 mg/dl	4 mg/dl	4 mg/dl	6 mg/dl	5 mg/dl
Blood transfusion	Frequent	Frequent	+	+	+	+	+
Adrenal calcifications	+ bilateral	Bilateral	-	+ bilateral	+	+	+
Hepatic transaminases	Elevated	Elevated	Elevated	Elevated	+	+	+
Serum albumin	N	N	Hypoalbuminemia	Hypoalbuminemia	Hypoalbuminemia	Hypoalbuminemia	Hypoalbuminemia
Renal functions	N	N	N	N	N	N	N
Acid lipase	NA	Affected	Affected	NA	Affected	Affected	Affected
Lipid profile, serum cholesterol	Elevated	Elevated	Elevated	Elevated	Elevated	Elevated	Elevated
LDL	Elevated	Elevated	Elevated	Elevated	Elevated	Elevated	Elevated
HDL	Low	Low	Low	Low	Low	Low	Low
Serum triglycerides	Elevated	Elevated	Elevated	Elevated	Elevated	Elevated	Elevated
End stage	4 months	3 months	6 months	10 months	4 months	3 months	5 months
Cause of death	Complicated chest infection, chronic diarrhea	Complicated chest infection, chronic diarrhea	Complicated chest infection, chronic diarrhea	Complicated chest infection, chronic diarrhea	Complicated chest infection, chronic diarrhea	Complicated chest infection, chronic diarrhea	Complicated chest infection, chronic diarrhea

GIT gastrointestinal manifestations, HDL high-density lipoprotein, FTT failure to thrive, LCF liver cell failure, LDL low-density lipoprotein