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

The Fanconi-Bickel syndrome (Fanconi and Bickel 1949) is a rare autoso mal recessive disorder for which no precise enzyme defect has been con sistently identified. It has variously been thought to be due to a def ect in galactose metabolism (Aperia et al 1981; Brivet et al 1983), ph osphorylase b kinase deficiency (Sanjad et al 1993) or a mitochondrial cytopathy (Hurvitz et al 1989). The clinical picture is one of hepato megaly with increased glycogen storage, rickets and marked growth reta rdation (Manz et al 1987). The biochemical features are dominated by t he renal Fanconi syndrome, namely proximal tubular acidosis, glycosuri a, phosphaturia and aminoaciduria. To date, therapeutic interventions have largely concentrated on the renal tubular dysfunction. This repor t presents data on the growth and renal tubular function of two brothe rs with Fanconi-Bickel syndrome and documents the effects of uncooked cornstarch (UCCS) therapy.