Mucolipidosis type III, a series of adult patients.

ABSTRACT:

Background

Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII, especially the milder forms, are scarce. This study provides a detailed description of the disease characteristics and its natural course in adult patients with MLIII.

Methods

In this retrospective chart study, the clinical, biochemical and molecular findings in adult patients with a confirmed diagnosis of MLIII from three treatment centres were collected.

Results

Thirteen patients with MLIII were included in this study. Four patients (31%) were initially misdiagnosed with

SUBMITTER: Oussoren E 

PROVIDER: S-EPMC6133174 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature