Box 3.

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