Table 1.
Most Frequent Clinical, Radiological, and Metabolic Findings in Individuals with MEGDHEL Syndrome
| Finding | Cohort, n = 67 | Literature, n = 7 | Total, n = 74 | Median Age of Onset, yra |
|---|---|---|---|---|
| Ethnicity | b | c | ||
| Any neonatal problem | 47/67 (70%) | 7/7 (100%) | 54/74 (73%) | |
| Neonatal hypoglycemia | 29/65 (44%) | 5/5 (100%) | 34/70 (49%) | |
| Severe neonatal liver dysfunction | 30/62 (48%) | 5/5 (100%) | 35/67 (52%) | |
| Neonatal liver failure | 15/65 (23%) | 7/7 (100%) | 22/72 (30%) | |
| Muscular hypotonia | 59/65 (91%) | 5/5 (100%) | 64/70 (91%) | 6 mo |
| Loss of skills | 50/67 (75%) | n/a | 50/67 (75%) | 12 mo |
| Progressive spasticity | 53/65 (82%) | 4/5 (80%) | 57/70 (81%) | 15 mo |
| Dystonia | 53/65 (82%) | 4/5 (80%) | 57/70 (81%) | 18 mo |
| Oropharyngeal dyskinesia, protrusion of the tongue | 34/59 (58%) | n/a | 34/59 (58%) | |
| Never learning to walk | 26/38 (68%) | n/a | 26/38 (68%) | |
| Sensorineural hearing loss | 48/61 (79%) | 5/5 (100%) | 53/66 (80%) | |
| Never learning to speak | 34/59 (58%) | n/a | 34/59 (58%) | |
| Moderate to severe intellectual disability | 45/51 (88%) | 1/1 (100%) | 46/52 (88%) | |
| Epilepsy | 23/66 (35%) | 4/6 (67%) | 27/72 (38%) | |
| MRI: basal ganglia involvement | 55/56 (98%) | 5/5 (100%) | 60/61 (98%) | |
| Optic atrophy | 14/55 (25%) | 0/1 (0%) | 14/56 (25%) | |
| 3‐methylglutaconic aciduria | 61/62 (98%) | 6/6 (100%) | 67/68 (99%) | |
| Lactic acidosis | 51/61 (84%) | 6/6 (100%) | 57/67 (85%) | |
| Positive filipin staining in fibroblasts | 6/10 (60%) | 2/2 (100%) | 8/12 (67%) |
In our cohort.
Europe (n = 41): Turkey (n = 17); Poland (n = 6); Sweden (n = 4); Finland, Spain (n = 2); Latvia, Ukraine, Rumania, Italy, Croatia, Portugal, the Netherlands, Belgium, Germany, (¼ German, ¼ Curacao, ½ Polish; n = 1). Africa (n = 4): Somalia (n = 2), South Africa, French African country (no details available; n = 1). Asia (n = 9): Pakistan (n = 3); India (n = 2); Malaysia (n = 2); Afghanistan, Bangladesh, China (n = 1). Middle East (n = 12): Saudi Arabia (n = 7); Iraq (n = 5). Australia (n = 1).
Arab Muslim (n = 2), Druze (n = 2), Palestine (n = 1), Pakistan (n = 2).
MEGDEL = 3‐methylglutaconic aciduria, dystonia–deafness, encephalopathy, Leigh‐like syndrome; MRI = magnetic resonance imaging; n/a = not available.