MMAA and stage 5 chronic kidney disease: We report the case of a 10-year-old girl, born to a patient affected by CblA (homozygous pathogenic mutation c.586C>T (p.Arg196Term) in exon 4 of the MMAA gene) complicated with End Stage Renal Disease (ESRD) and renal transplantation at 16 years of age [10,11,12].