Fanconi renotubular syndrome 1

A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21.

Signs and symptoms

• Low-molecular-weight proteinuria
• Aminoaciduria
• Elevated circulating alkaline phosphatase concentration
• Glycosuria
• Impaired renal tubular reabsorption of phosphate
• Hyperphosphaturia
• Metabolic acidosis
• Short stature
• Renal insufficiency
• Osteomalacia