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Glycogen storage diseases

1997; Elsevier BV; Volume: 7; Issue: 2 Linguagem: Inglês

10.1016/s0957-5839(97)80191-1

1532-2076

P. Lee,

Neurological disorders and treatments

The glycogen storage diseases (GSDs) are an heterogeneous group of inherited disorders of carbohydrate metabolism. The specific enzyme defects are welldefined and for some, current therapeutic interventions are relatively straightforward and effective. The consequences of the enzyme defects result in biochemical and clinical phenotypes which differ, both qualitatively and quantitatively, from disorder to disorder (Tables 1 and 2). Traditionally, they are divided into muscle and hepatic forms, and numerical types assigned. The present list of recognized enzyme defects of glycogen metabolism, with their eponyms, is shown in Table 3. This review discusses those GSDs that may present to paediatricians: the hepatic types 1, III, VI and IX and the muscle type II. Type IV presents in infancy but is extremely rare with only a single case reported in the UK in the past 20 years. The other muscle GSDs, types V and VII, are disorders of adulthood2 The reported overall incidence of the hepatic GSDs is about 1 in 50 000 live births. Although GSD-I was originally thought the most common, GSD-IX is the most prevalent albeit often unrecognized.