Investigation for Developmental Regression

Measurements: Length, Weight, OFC Blood: FBC, Ferritin, U&E, LFT, Bone, CK, TSH, Free T4, Vitamin D level, Ammonia, Lactate, Pyruvate, Acylcarnitines, Plasma amino acids, White cell enzymes, VLCFAs, Urate, Biotinidase Urine: Sulfite stick test, Amino and Organic acids, Oligosaccharides, GAGs Radiology: MRI head