[MIM 227 810]

(Glycogen storage disease type XI, glycogen storage disease by deficiency in Glut 2 )

Incidence: < 1/1.106. Hepatic glycogenosis. Autosomal recessive transmission of a composite homozygous or compound heterozygous mutations of the SLC2A2 gene (3q26.1 - q26.3). This gene codes for the GLUT2 protein, the carrier 2 glucose that facilitates the release of glucose and other hexoses (galactose) from the intestinal cells, and the proximal renal tubule; this enzyme promotes the penetration and the release of these sugars in hepatocytes and the pancreatic β cells.

First clinical signs in the first months of life: 

-        hyperglycemia and post-prandial hypergalactosemia (neonatal screening is falsely positive for galactosemia); hypoglycemia when fasting

-        hepatosplenomegaly by accumulation of glycogen; 

-        severe renal tubular dysfunction: massive glucosuria, proteinuria, phosphaturia, aminoaciduria, hyperuricemia, hypophasphatemia;

-         growth retardation (short stature) and delayed puberty;

-         severe osteopenia favoring pathologic fractures; 

-        abnormal fat distribution: shoulders and abdomen; 

-        hypercholesterolemia and increased serum biotinidase activity.

Symptomatic treatment (NaHCO3 supplements , K, vitamins), frequent light meals and same dietetic precautions as in congenital galactosemia (see this term).

Anesthetic implications: 

Check hepatic function; avoid prolonged fasting (preoperative glucose infusion); perioperative monitoring of glycemia; strict compensation of the urinary losses.

References:

-        DeLeon AM, Gaiha RD, Peralta FM.
The successful anesthetic management of a cesarean delivery in a patient with Fanconi–Bickel syndrome.
Case Reports in Anesthesiology 2022: 3220486, doi 10.1155/2022/3220486

Updated: September 2022