Table 1 Clinical information on 244 patients with MATD reported in the literature
From: 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Sex | female n = 107 |
male n = 132 | |
not reported n = 5 | |
Median age at report | 6.0 years (neonatal to 36 years, n = 198) |
Parental consanguinity | 33.3% (61/183) |
Deceased patients | 8.9% (21/235) |
Median age at disease onset | 12 months (2 days to 8 years, n = 205) |
Patients with at least 1 metabolic decompensation | 89.6% (198/221) |
Patients alive with normal development and no neurologic symptoms | 77.0% (157/204) |
Patients with developmental delay | 19.6% (40/204) |