Wcn24-1657 Novel Variants in the Gatm Gene Cause Fanconi Syndrome in 2 Children

Fanconi renotubular syndrome, type 1 (FRTS1; MIM #134600) is an ultrarare autosomal dominant disorder caused by pathogenic variants in the GATM gene, which encodes glycine amidinotransferase that is required for the regeneration of ATP from ADP in cells mitochondria. FRTS1 is characterized by generalized proximal renal tubular dysfunction, manifesting early in life and progressing to ESKD in middle adulthood. Only six missense GATM variants associated with FRTS1 have been reported by now.