Metabolic and Therapeutics Monitoring

Metabolic Laboratory Monitoring Programs

The Metabolic Laboratory offers monitoring for a range of metabolic disorders. See disorder and metabolite links for details of sample requirements and recommended frequency.

*Metabolite*	*Disorder*
Amino acids (plasma)	aminoacidopathies (eg. PKU, MSUD)
Carnitine	carnitine deficiency states
Galactose-1-phosphate	galactosemia
Methylmalonic acid	vitamin B12 deficiency
Phytanic acid	Refsum’s disease
Very long chain fatty acids	adrenoleukodystrophy

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Metabolic Laboratory Monitoring Programs

Metabolite

Disorder