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 |