Patients are characterized by D-glyceric acid in the urine and biallelic sequence variants in the GLYCTKgene. Autosomal-recessive trait of inheritance. Urinary organic acid analyses may suggest the diagnosis.
GLYCTKGLYCTKPatients are characterized by D-glyceric acid in the urine and biallelic sequence variants in the GLYCTKgene. Autosomal-recessive trait of inheritance. Urinary organic acid analyses may suggest the diagnosis.