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

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