CATCH-UP GROWTH IN FANCONI-BICKEL SYNDROME WITH UNCOOKED CORNSTARCH

The Fanconi-Bickel syndrome (Fanconi and Bickel 1949) is a rare autosomal recessive disorder for which no precise enzyme defect has been consistently identified. It has variously been thought to be due to a defect in galactose metabolism (Aperia et al 1981; Brivet et al 1983), phosphorylase b kinase deficiency (Sanjad et al 1993) or a mitochondrial cytopathy (Hurvitz et al 1989). The clinical picture is one of hepatomegaly with increased glycogen storage, rickets and marked growth retardation (Manz et al 1987). The biochemical features are dominated by the renal Fanconi syndrome, namely proximal tubular acidosis, glycosuria, phosphaturia and aminoaciduria. To date, therapeutic interventions have largely concentrated on the renal tubular dysfunction. This report presents data on the growth and renal tubular function of two brothers with Fanconi-Bickel syndrome and documents the effects of uncooked cornstarch (UCCS) therapy.