Leucocyte Enzymes (White cell enzymes - galactosidases, hexosaminidase, arylsulphatase etc)

General Information

The leucocyte enzymes can be requested individually to test for a specific disorder, or as part of one of the following profiles:

Hepatosplenomegaly

• Leucocyte sphingomyelinase (Niemann-Pick A & B)
• Leucocyte β-glucosidase (Gaucher’s disease)
• Leucocyte acid esterase (Wolman’s disease & Cholesterol Ester Storage disease)
• Plasma chitotriosidase (Non specific screen for some lysosomal disorders such as Gaucher’s disease and Niemann Pick C– screening test only).

Dysmorphy

(See http://www.metbio.net/metbioGuidelines.asp for guidelines)
• Plasma I-cell Screen (Mucolipidosis II & III)
• Plasma aspartylglucosaminidase (Aspartyglucosaminuria)
• Leucocyte arylsulphatase A (Multiple Sulphatase Deficiency)
• Leucocyte β-glucuronidase (MPS VII)
• Leucocyte β-galactosidase (GM1 gangliosidosis & galactocerebrosidosis)
• Leucocyte α- & β-mannosidase (α- & β-mannosidosis), leucocyte α-fucosidase (α-fucosidosis)

Gangliosidosis

• Leucocyte β-galactosidase (GM1 Gangliosidosis)
• Leucocyte total hexosaminidase (Sandhoff’s disease)
• Leucocyte hexosaminidase A (Tay-Sach’s disease).

Leukodystrophy

• Leucocyte arylsulphatase A (metachromatic leucodystrophy)
• Leucocyte β-galactocerebrosidase (Krabbe’s leucodystrophy).

Hydrops fetalis

(See http://www.metbio.net/metbioGuidelines.asp for guidelines).
• Leucocyte β-glucosidase (Gaucher’s Disease)
• Leucocyte β-glucuronidase (MPS VII)
• Leucocyte β-galactosidase (GM1 gangliosidosis & galactosialidosis)
• Leucocyte sphingomyelinase
• Leucocyte acid esterase
• Leucocyte arylsulphatase A
• Plasma chitotriosidase (Non specific screen for some lysosomal disorders such as Gaucher’s disease and Niemann Pick C – screening test only).

I-cell screen

• Mucolipidoses II & III