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Table 5 Distribution of liver manifestations by CDG as reported in the literature

From: Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

CDG

Hepatomegaly

Hepatocellular disease

Cholestasis

Steatosis

Fibrosis

Liver tumor

References

PMM2

+

+

+

+

+

[5,6,7]

ALG6

+

+

+

[7, 32]

ALG8

+

+

+

+

+

[7]

ALG12

+

[33]

ALG13

+

[34]

CCDC115

+

+

+

+

+

[7]

DDOST

+

[35]

DHDDS

+

+

+

[36]

MPI

+

+

+

+

[37]

PGM1

+

+

+

+

[7]

SLC10A7

 

SLC35A2

+

[38, 39]

SLC35C1

 

SLC39A8

 

TMEM165

+

+

[40]

VMA21

+

+

+

[41]

  1. Classification adapted from Ferreira et al. [31]. Hepatomegaly was defined as an enlarged liver on physical exam or ultrasonography. Hepatocellular disease was defined as elevated ALT or AST. Cholestasis was defined as jaundice, elevated bilirubin, or histopathological evidence of bile accumulation. Steatosis was defined as ultrasonographic or histopathological evidence of hepatocellular lipid accumulation. Fibrosis was defined as transient elastography score equal or greater than F1 or histopathological evidence of fibrosis. Liver tumor was defined as any imaging evidence of tumoral growth (neoplastic or non-neoplastic) in the liver. + denotes presence of the manifestation in the phenotype of at least one patient with the disorder; − denotes absence of the manifestation in all patients analyzed. The column “References” refer to the positive findings in each disorder