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Table 1 Main clinical features of GSDs 0, IV, VI, IX and XI

From: Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

 

Liver

Renal tubulopathy

Growth retardation

Osteopenia

Muscle/heart involvement

Developmental delay/Neuropathy

Hepatomegaly

Fibrosis/ cirrhosis

Hepatocellular carcinoma

GSD 0 a

+/−

−

−

−

+/−

+/−

−

+/−

GSD IV

+/−

+/−

+/−

−

+/−

−

+/−

+/−

GSD VI

+/−

+/−

+/−

−

+ 

+/−

+/−

+/−

GSD IX a

+/−

+/−

−

+/−

+*

+/−

+/−

+/−

GSD IX b

+/−

+/−

−

−

+*

+/−

+/−

+/−

GSD IX c

+/−

+/−

+/−

+/−

+*

+/−§

+/−

+/−

GSD XI

+

−

+/−

+†

+

+§

+/−

+/−

  1. †Fanconi-like renal tubular acidosis presenting with glycosuria, proteinuria, phosphaturia and aminoaciduria
  2. *Growth is delayed but it generally improves, with subjects reaching normal adult height
  3. §Hypophosphatemic rickets