Additional biochemical investigations in specific cases
Urine: purines and pyrimidines
Blood: ammonia; copper and caeruloplasmin; cholesterol and 7-dehydrocholesterol; biotinidase; white cell lysosomal enzymes; plasmalogens, pipecolic acid and phytanic acid; cholestanol; prolidase
Cerebrospinal fluid (CSF): glucose (including CSF to plasma glucose ratio); glycine (including CSF glycine to plasma glycine ratio); lactate; pyruvate; neurotransmitters
Muscle: respiratory complexes
Hair: amino acid analysis