Table 1 - . Clinical and laboratory data on Brazilian MPS IIIB patients.
| No | Gender | Current age (Yrs) | Age at diagnosis (Yrs) | NAGLU activity (reference) | Urinary GAG (ref ug/mg creatinine) | Variants | Age at onset of symptoms (yrs) | Initial symptoms | Age at first seizure (year) | Behavioral problems (age) | Cause of death (age) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 7 | 3 | 0.05 (10-34) | - | - | 2 | Coarse facial features and Global developmental delay | NR | Sleepwalking, night terror, agitation, aggression. | Alive |
| 2 | F | 5 | 3 | 0.31 (10-34) | - | NC_000017.11: c.830_832delGCT / c.830_832delGCT | NR | NR | NR | Agitation and Aggressiveness | Alive |
| 3 | F | 4 | 0.8 | 0.5 (10-34) | - | - | 0.6 | Gingival overgrowth | NR | NR | Alive |
| 4 | F | 12 | 10 | 0.12 (10-34) | 226 (26-97) | NC_000017.11: c.830_832delGCT / c.830_832delGCT | 1 | Developmental Delay | NR | Agitation, Anxiety, Aggressiveness and Insomnia | Alive |
| 5 | M | 5 | 1 | 0.00 (10-34) | 505 (79-256) | NC_000017.11: c.700C>T (NP_000254.2: p.Arg234Cys) / c.700C>T (NP_000254.2: p.Arg234Cys) | 0.3 | Macrocephaly | NR | Irritability, Aggressiveness, Poor visual interaction | Alive |
| 6 | M | 18 | 4 | 0.27 (6.6-19) | 600 (67-124) | NC_000017.11: c.607C>T (NP_000254.2: p.Arg203Ter) / c.607C>T (NP_000254.2: p.Arg203Ter) | 2 | Delayed speech and language development | NR | NR | Alive |
| NC_000017.11: c.82G>A (NP_000254.2: p.Glu28Lys) / c.82G>A (NP_000254.2: p.Glu28Lys) | |||||||||||
| 7 | M | 12 | 9 | 0.5 (10-34) | 176 (26-97) | NC_000017.11: c.607C>T (NP_000254.2: p.Arg203Ter) / c.607C>T (NP_000254.2: p.Arg203Ter) | 2 | Macrocephaly | NR | Aggressiveness, Irritability | Alive |
| 8 | M | 7 | 1 | 0.35 (10-34) | 527 (133-274) | - | 1 | Upper Airway Infection | NR | Apathy | Alive |
| 9 | F | 22 | 18 | 0.19 (10-34) | 77 (13-45) | - | 6 | Agitation | 18 | Agitation (6) and Aggressiveness | Alive |
| 10 | F | 5 | 3 | 0.00 (10-34) | 123 (64-127) | NC_000017.11: c.1597C>T (NP_000254.2: p.Arg533*) / c.1597C>T (NP_000254.2: p.Arg533*) | 2 | Delayed speech and language development | NR | Hyperactivity (3) | Alive |
| NC_000017.11: c.1811C>T (NP_000254.2: p.Pro604Leu) / c.1811C>T (NP_000254.2: p.Pro604Leu) | |||||||||||
| 11 | M | 7 | 5 | 0.3 (>1.5) | - | - | 2 | Global developmental delay | NR | NR | Alive |
| 12 | M | Deceased | 20 | NRa | - | NC_000017.11: c.222_247del (NP_000254.2: p.Val75Glyfs*108) / c.222_247del (NP_000254.2: p.Val75Glyfs*108) | 1 | Failure to thrive, Hepatomegaly and Diarrhea | NR | Aggresiveness (12) | Pneumonia (21) |
| 13 | F | Deceased | 10 | 0.05 (10-34) | 192 (26-97) | - | 4 | Global developmental delay | NR | Agitation (10) | Pneumonia (13) |
| 14 | M | Deceased | 6 | 0.00 (10-34) | 263 (26-97) | - | 5 | Agitation | 9 | Agitation | Pneumonia (13) |
| 15 | F | Deceased | 22 | 0.12 (11-37) | 124 (13-45) | - | 5 | Delayed speech and language development, Ataxia and Neurological Regression | NR | Hyperactivity (5) | Cardiorespiratory arrest (28) |
| 16 | M | 19 | 5 | 0.00 (10-34) | 340 (53-115) | - | 2 | Delayed speech and language development | NR | Agitation (5) | Alive |
| 17 | F | 18 | 7 | 0.3 (11-37) | 164 (67-124) | - | 5 | Delayed speech and language development and Hyperactivity | NR | Hyperactivity, Psychosis, aggressiveness | Alive |
| 18 | F | 7 | 2 | 0.00 (10-34) | 297 (68-188) | - | 1 | Global developmental delay and Irritability | NR | Irritability and Agitation | Alive |
| 19 | M | 11 | 1 | 0.1 (10-34) | 286 (67-124) | - | 0.4 | Dyspnea | NR | Austistic Behavior and Aggressiveness | Alive |
NR: Not Reported. F: Female. M: Male.aDespite not having the result from NAGLU activity available, patient 12 was included because we had molecular analysis of NAGLU. NAGLU reference values vary according to method (Leucocytes 10-34 nmol/17h/mg; plasma 11-37 nmol/h/mL; filter paper>1.5 nmol/h/mL).