Cholesterol Ester Storage Disease

Enzyme tests for three further disorders not readily included in the above categories are available in the laboratory and are listed below.

DISORDER	ENZYME
Glycogen storage disease type IV (Andersen disease)	Glycogen Brancher Enzyme
X-linked ichthyosis	Steroid sulphatase and arylsulphatase C
Pyruvate carboxylase deficiency*	Pyruvate carboxylase
(* = prenatal diagnosis available)

Back to Alphabetical List of Assays Available