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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