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Table 5 Patients in whom molecular studies showed no mutations

From: Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172