Table 1

Inherited metabolic diseases presenting with neonatal seizures and key screening investigations

Pyridoxine-dependent seizures*Urine, CSF or plasmaα-Amino adipic semialdehyde
Pipecolic acid
Pyridoxal phosphate-dependent seizures*CSFPyridoxal phosphate
3-Phosphoglycerate dehydrogenase deficiency*CSFSerine
GLUT-1deficiency*CSF and plasma simultaneousGlucose (low CSF/plasma ratio <0.46)
Sample plasma first to avoid stress-related elevation and false-positive result
Biotinidase deficiency*PlasmaBiotinidase
Non-ketotic hyperglycinaemiaCSF and plasmaAmino acids (raised CSF/plasma glycine ratio >0.09)
Molybdenum cofactor deficiency and sulphite oxidase deficiencyUrine (fresh)Sulphite dipstick
Purine studies
Purine disordersUrinePurine studies
Peroxisomal disordersPlasmaVery long-chain fatty acids
  • * Effective treatment available.

  • CSF, cerebrospinal fluid; GLUT-1, glucose transporter 1.