Diagnosis

Treatable Intellectual Disability

an interactive tool for the clinician

Plasma Amino Acids
Molecular testing 
CSF Other
Urine Organic Acids
Plasma Total Homocysteine
Metals
CSF Neurotransmitters
Urine Glycosaminoglycans
Specific Tests
Miscellaneous
Please note: Routine metabolic screening tests comprise the following:  plasma amino-acids, total homocysteine & urine organic acids, creatine metabolites, purines/pyrimidines. These tests are all accessible and affordable with the potential to identify 2 or more IEMs (max 21). 

As mucopolysaccharidoses and oligosaccharidoses can often be recognized based on clinical features, urine glycosaminoglycans and oligosaccharides are listed as specific tests here. 

CSF Amino Acids
Urine Purine & Pyrimidines
Urine Creatine Metabolites
Enzyme Activity
Screening Tests
Urine Oligosaccharides