Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

ABSTRACT:

Background

Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE, codes for UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, which catalyzes the first two reactions in the synthesis of sialic acid. Reduced sialylation of muscle glycoproteins, such as alpha-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM.

Methods

We treated 4 HIBM patients with intravenous immune globulin (IVIG), in order to provide sialic acid, because IgG contains 8 micromol of sialic acid/g. IVIG was infused as a loading dose of 1 g/kg on two consecutive days followed by 3 doses of 400 mg/kg at weekly intervals.

Results

For all four

SUBMITTER: Sparks S 

PROVIDER: S-EPMC1790898 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature