P MITO DIS INV

Table 2

Multisystem evaluation

Central nervous system	Neuroimaging: MRI, CT for acute stroke episodes  Electroencephalogram (EEG)
Peripheral nervous system	Nerve conduction studies, electromyography
Eyes	Ophthalmological referral  Visual evoked potentials/electroretinogram
Hearing	Audiological assessment  Speech and language evaluation
Endocrine	Growth parameters  Hormone assays (growth hormone, thyroid, parathyroid, adrenal function)
Pancreatic	Blood glucose monitoring, HbA1c  Faecal elastase (exocrine function)  Amylase, lipase
Hepatic	Hepatic ultrasound  Liver function tests
Gastrointestinal	Assessment of swallow  Growth monitoring
Muscular	Physiotherapy evaluation
Haematological	Full blood count and film
Renal	Tubular function assays (urine NAG/creatine and RBP/creatine)  Renal function tests
Cardiac	ECG  Echocardiogram

• NAG, N-acetyl-glucosaminidase; RBP, retinol binding protein.