Table 3 Summary of molecular testing, chronic medical treatment, and outcomes
Case | Molecular tests completed (days from initial sample collection to results) | Genotype | Time from presentation to carbamyl-glutamate initiation | Initial carbamyl-glutamate dose and method of administration | Most recent carbamyl-glutamate dose and method of administration | Current diet and supplements | Dietary plan for illness | Outcomes |
|---|---|---|---|---|---|---|---|---|
1 | Whole exome sequencing (34 days) | c1323C > Ga (pY441X) homozygous | 36 days | Initial nasogastric (NG) tube dose of 188 mg/kg/day diluted in water | 50 mg/kg/day divided into two doses per day mixed in applesauce | No protein restriction | Restrict protein and increase dose of carbamyl-glutamate | Seizure disorder, spastic cerebral palsy, and cortical visual impairment |
2 | CPS1 gene testing and simultaneous NAGS gene testing (17 days) | c1228T > Cb (pS410P) homozygous | 22 days | Initial NG tube dose of 100 mg/kg/day diluted in water, subsequently raised to 250 mg/kg/day | 67 mg/kg/day divided into three doses per day, mixed into banana puree | No protein restriction 32 mg/kg/day Citrulline | No plan | None |
3a | OTC gene testing, then NAGS gene testing (83 days) | IVS6 + 5G > Ac and c1298A > Gc (pE433G) | 13 months | oral dose of 50 mg/kg/day diluted in water | 50 mg/kg/day divided into three doses per day | 1.3 g/kg/day protein (self-restricts) | No plan | None |
4 | OTC gene testing, then NAGS gene testing, then CPS1 gene testing, then phenotypic core for CPS1, then NAGS (promoter), then whole genome sequencing (1011 days) | -3064 A > Td and unspecifiede | 91 days | 100 mg/kg/day Method not available | 100 mg/kg/day Method not available | No protein restriction | No plan | None |
5 | Unknown | Not available | 4 years | Not available | 43 mg/kg/day divided into three doses per day | 0.8 g/kg/day protein (self-restricts) | No nutrition plan. Increase dose of carbamyl-glutamate | Idiopathic adult-onset spastic diplegia |
6b | OTC gene testing, then NAGS gene testing, then CPS1 gene testing, then sequencing of NAGS gene regulatory region (3175 days) | -3063 C > Af homozygous | 8 years | Oral dose of 60 mg/kg/day | 47 mg/kg/day Method not available | No protein restriction | No plan | Subglottic stenosis |
7 | OTC gene testing, then NAGS gene testing (865 days) | 1312T > Ag (pY424N) Homozygous | 20 years | Oral dose of 53 mg/kg/day diluted in water | 57 mg/kg/day Method not available | No protein restriction | No plan | Diabetes and obesity |