Gene studied | S.No (as in Additional file 1) | Age at presentation | Sex (proband) | Consanguinity | Family history of similar disease | Clinical features in proband | Amino acids levels by MS/MS on dried blood spot (μmol/l) | GC-MS in urine | Ammonia level (in μmol/l) |
---|---|---|---|---|---|---|---|---|---|
ASL | 78 | 4 days | Male | No | No | Neonatal encephalopathy, convulsions, lethargy, reduced feeding | Citrulline- 2557, ASA- 753.19 | Increased orotate 393 | NK |
OTC | 86 | 4 days | Male | No | Yes, previous 2 | Neonatal encephalopathy and deaths | NK | Allopurinol challenge test in mother - increase in orotate | NK |
93 | 5 days | Male | No | Yes | Neonatal encephalopathy and death | NK | Increased orotate | High | |
96 | 2 years | Female | No | Yes, elder sister | Encephalopathy, Febrile illness with high ammonia | Normal amino acid levels Citrulline 15, arginine 15, ornithine 146 | Increased orotate | High 1600 | |
98 | 1.5 years | Female | No | No | Encephalopathy, Vomiting, awkward behaviour, high ammonia | NK | Increased orotate | Level NK |