Glykogenose der Leber mit Galaktoseverwertungsst�rung und schwerem Fanconi-Syndrom

Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

“…Consanguinity in families also suggested autosomal recessive inheritance of FBS. This type of inheritance was further supported by the occurrence of FBS in siblings (Families 14,21,24,30,45,47,48,64,65), and the proximity of places of residence of patients (Cases 2 and 13, 10 and 30). It was ®nally proven by the detection of homozygous mutations in the Glut2 gene in a high proportion of FBS patients (64%), with compound heterozygozity being responsible for the remainder (Santer et al, submitted).…”

A Case of Glycogen Storage Disease Type I Associated with an Incomplete Type of Fanconi Syndrome; The Protective Role of Lysosomal Alpha 1,4-Glucosidase and Insulin Deficiency Against Hypoglycemia

“…This case was associated with an incomplete type of Fanconi syndrome characterized by partial aminoaciduria, mild proteinuria, hyperphosphaturic hypophosphatemia with low per cent TRP and hyperuricosuric normouricemia with increased fractional excretion of uric acid in spite of the presence of lactic acidemia due to GSD I. In our knowledge, three reported cases of GSD I associated with Fanconi syndrome are known (Odievre 1966;Lampert and Mayer 1967;Hers and Van Hoff 1968). The relationship between the absence of glucose 6-phosphatase activity and Fanconi syndrome is currently unknown.…”

Defective Galactose Oxidation in a Patient with Glycogen Storage Disease and Fanconi Syndrome

“…Thirteen such cases have so far been reported (1, 2,4,5,11,12,17,20,22,23). In addition to the normal features of the Fanconi syndrome (phosphoglucoaminoaciduria, vitamin D resistant rickets and growth retardation) and unclassified glycogen storage disease, patients exhibit disturbed responses to carbohydrate loading, especially major impairment of galactose utilization.…”