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Table 1 Patients’ characteristics

From: Long-term renal outcome in methylmalonic acidemia in adolescents and adults

Patient Sex Age at diagnosis Gene Mutation Biochemical phenotype B12-responsive disease Past medical history Age (years) at time of renal analysis
#01 F Birth MUT A731T/A731T mut0 No Vesicoureteral reflux 17
#02 M 3.5 years MUT N219Y/Q383H mut0 No Left hydronephrosis on junction syndrome, optic atrophy 20
#03 F Birth MUT R511X/G642R mut0 No Hypokinetic cardiac disease 23
#04 F 8 months MUT G203R/M740K mut No Hypothyroidism; viral myocarditis 28
#05 M Birth MUT S342X/R694W mut No   22
#06 F 3 months ND ND mut Yes Spine fractures 24
#07 F 2.5 years ND ND mut No Asthma 32
#08 M 2 years ND ND cblA Yes Anorexia during late childhood 25
#09 M 6 months MMAA R22X/R22X cblA No 2 fractures of the right arm 16
#10 M 14 years ND ND cblA Yes Single pelvic kidney 32
#11 M 3 months MMAA R145X/R145X cblA Yes Obstructive and restrictive lung disease, osteoporosis 30
#12 M 8 months MMAA K276N/K276N cblA Yes Osteoporosis 27
#13 M birth ND ND cblA Yes   13
  1. M, male; F, female; ND, not determined