There is also a need for restoration of metabolic flexibility, allowing fatty acid oxidation, in addition to glycogenosis
. Lifestyle interventions involving nutrition, exercise, and stress reduction with normalization of circadian rhythms should be at the core of treatment.
Glycogenic hepatopathy was first described in 1930 by Mauriac as "hepatic glycogenosis
, characterized by hepatic glycogen deposition in patients with poorly controlled type 1 diabetes mellitus" .
Stephenne et al., "Biodistribution of adult derived human liver stem cells following intraportal infusion in a 17-year-old patient with glycogenosis
type 1A," Nuclear Medicine and Biology, vol.
Recently, a recessive loss-of-function mutation in the PGM1 gene that encodes the enzyme PGM1 has been shown to be associated with hypoglycaemia, similar to glycogenosis
In the liver, insulin decreases glucose production by decreasing gluconeogenesis and glycogenosis
, whereas it increases glycogen synthesis in the liver and muscle.
The rare conditions that present PGBs (at this age-group) include mainly glycogenosis
IV (and probably type VII ), in which cases these PGBs are almost exclusively restricted to striated muscles .
Hermans et al., "Glycogenosis
type II (acid maltase deficiency)," Muscle & Nerve.
Petit et al., "Muscle glycogenosis
due to phosphoglucomutase 1 deficiency," New England Journal of Medicine, vol.
Kilimann, "Phosphorylase-kinase-deficient liver glycogenosis
with an unusual biochemical phenotype in blood cells associated with a missense mutation in the subunit gene (PHKB)," Human Genetics, vol.
Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis
type 2(Pompe's disease).
FHF: fulminant hepatic failure; BA: biliary atresia; EC: sclerosing cholangitis; GL: glycogenosis
type 1B and 3.