Abstract 165 Table 2
Full Blood Count( FBC) (on admission) Hb 120 g/l, WCC 18.6 × 109/l, Neutrophils 11.69 × 109/l, Platelets 544 × 109/l
FBC (on day of deterioration) Hb 125 g/l, WCC 40.7 × 109/l, Neutrophils 39 × 109/l, Platelets 653 × 109/l
CRP 31 mg/l (on admission), increased to 75
Urea & Electrolytes Na 133 mmol/l, K 4.1 mmol/l, Urea 0.9 mmol/l, Creatinine 17 umol/l
Blood culture No growth after 5 days
Ammonia 36 umol/l
Plasma amino acid Normal level of alanine, tyrosine, phenylalanine, lysine, ornithine
Cerebrospinal fluid Culture -no growth, WCC 23, RBC <3, negative meningococcal/pneumococcal PCR, negative virology
Urine culture No growth
Urine amino acids Imidopeptiduria
Rapid trio exome sequencing Homozygous pathogenic PEPD variant {c.978G>A, p.(Trp326*)}.