Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

ABSTRACT:

Background

Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose 6-phosphate recognition marker is not synthesised on to lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase.

Objectives

Clinical, biochemical and molecular findings in 61 probands (63 patients) are presented to provide a broad perspective of these mucolipidoses.

Methods

GNPTAB was sequenced in all probands and/or parents. The activity of several lysosomal enzymes was measured in plasma, and GlcNAc-1-phosphotransferase was assayed in leucocytes. Thirty-six patients were studied in detail, allowing exte

SUBMITTER: Cathey SS 

PROVIDER: S-EPMC3712854 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature