Other disorders of amino-acid metabolism
Description
ornithine carbamoyltransferase deficiency: Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
Data source
| FinnGen phenocode | E4_AMINO |
| Hospital Discharge registry | ICD-10: E72 |
| Cause of Death registry | ICD-10: E72 |
| Include | E4_AMINOTRANSPORT, E4_SULFURMET, E4_UREACYCLE, E4_LYSINEHYDRO, E4_ORNITHINE, E4_GLYCINE, E4_AMINONAS |
| Level in the ICD-hierarchy | 3 |
| First defined in version | DF2 |
Key figures
| Sex | All | Female | Male |
| Number of individuals | 37 | 26 | 11 |
| Unadjusted prevalence (%) | 0.03 | 0.03 | 0.02 |
| Mean age at first event (years) | 46.77 | 45.28 | 50.29 |
| Median number of events / individual | 1 | 1 | 1 |
Clinical metrics
| Sex | All | Female | Male |
| Recurrence within 6 months (%) | 24.32 | 30.77 | 9.09 |
| Case fatality at 5-years (%) | 10.81 | 7.69 | 18.18 |