Table 3.
Clinical characteristics of patients with complete biochemical screening. *Several patients presented with features of multiple categories, so were counted in each.
| Category | Number (%) | |
|---|---|---|
| Symptom Onset | Infancy (0-3y) | 47 (42.0%) |
| Childhood (4-11y) | 7 (6.3%) | |
| Adolescence (12-18y) | 4 (3.6%) | |
| Adulthood (19y+) | 51 (45.5%) | |
| Unknown | 3 (2.7%) | |
| Clinical Course * | Acute | 6 (5.4%) |
| Acute-relapsing | 22 (19.6%) | |
| Diurnal variation | 1 (0.9%) | |
| Progressive | 43 (38.4%) | |
| Static/Chronic | 50 (44.6%) | |
| Asymptomatic (Family History Only) | 2 (1.8%) | |
| Triggers | Fasting | 1 (0.9%) |
| Eating | 3 (2.7%) | |
| Exercise | 20 (17.9%) | |
| Fever | 4 (3.6%) | |
| Catabolism | 12 (10.7%) | |
| Post-Partum | 0 | |
| None Identified | 72 (64.3%) | |
| Organ Systems Involved | Neurologic | 86 (76.8%) |
| Dysmorphism | 7 (6.3%) | |
| Ophthalmologic | 22 (19.6%) | |
| Oto | 13 (11.6%) | |
| Integument | 8 (7.1%) | |
| Cardiac | 14 (12.5%) | |
| Pulmonary | 8 (7.1%) | |
| Gastrointestinal | 25 (22.3%) | |
| Genitourinary | 8 (7.1%) | |
| Musculoskeletal | 71 (63.4%) | |
| Endocrinologic | 18 (16.1%) | |
| Immunologic | 4 (3.6%) | |
| Hematologic | 8 (7.1%) | |
| Psychiatric | 14 (12.5%) | |
| Asymptomatic (Family History Only) | 2 (1.8%) | |
| # Organ Systems Involved | 0 | 2 (1.8%) |
| 1 | 21 (18.8%) | |
| 2 | 44 (39.3%) | |
| 3 | 16 (14.3%) | |
| 4 | 11 (9.8%) | |
| 5 | 10 (8.9%) | |
| 6+ | 8 (7.1%) | |
| Development * | Normal | 69 (61.6%) |
| Cognitive Impairment | 31 (27.7%) | |
| Developmental Delay | 38 (33.9%) | |
| Autism | 9 (8.0%) | |
| Regression | 12 (10.7%) | |
| Family History | Yes | 49 (43.8%) |
| No | 63 (56.3%) | |