Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Table 1 Clinical details and demographic profile of the adult patients with type I Gaucher disease

Patient ID	P₁	P₂	P₃	P₅	P₆	P₇
Age at the time of investigation (in years)	20	20	26	25	28	40
Sex	M	F	F	M	F	F
Region	GJ	GJ	GJ	PB	UP	MH
Symptoms
Deep superficial reflexes					+
Edema (Pelvis)				+
Heaviness in abdomen				+
Generalized weakness						+
Splenomegaly	+	+	+	+	+	+
Hepatomegaly	+		+	+
Hematological abnormalities
Anemia	+	+			+	+
Thrombocytopenia	+			+	+	+
Cytopenia	+
Vacuolated lymphocytes					+
Bone marrow analysis (presence of Gaucher cells)	+			+	+	+
Bone abnormalities
Difficulty in walking	+
Avascular necrosis (left femur)	+
Enzyme Replacement Therapy				+	+

Abbreviation: F Female, GJ Gujarat, MH Maharashtra, M Male, PB Punjab, UP Uttar Pradesh
Clinical history of the patient P₄ is unavailable

ISSN: 1471-2350