Table 3
Baseline investigations; global delay with no specific associated findings
Blood
Urine
Full blood count
Organic acids
Urea, sodium, potassium, calcium
Amino acids
Liver function tests: ALT, ALP, γGT, albumin
Glycosaminoglycans
Lactate
Creatine kinase
Thyroid function tests (TSH, free thyroxine)
Ammonia
Urate
Amino acids