Two eminently treatable genetic metabolic myopathies.

Abstract:

:Treatment of the genetic metabolic myopathies remains generally unsatisfactory with the exception of a select few. Multiple Acyl Co-A Dehydrogenase Deficiency (Glutaric Aciduria type II), in particular, has been shown to respond well to riboflavin supplementation. Recently, studies have also confirmed the effectiveness of recombinant enzyme replacement therapy for Acid Maltase Deficiency (Pompe's Disease). Accurate and early diagnosis of these diseases is vital to prevent serious complications and impaired recovery following delayed treatment.

journal_name

Neurol India

journal_title

Neurology India

authors

Yee WC

doi

10.4103/0028-3886.43452

subject

Has Abstract

pub_date

2008-07-01 00:00:00

pages

333-8

issue

3

eissn

0028-3886

issn

1998-4022

journal_volume

56

pub_type

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