Laboratory test | In sample of | Disorder |
---|---|---|
Organic acids | Urine | Glutaric aciduria type I, propionic aciduria, methylmalonic aciduria, cobalamin deficiencies |
Lactate | Plasma | Propionic aciduria, methylmalonic aciduria, biotin responsive basal ganglia disease |
Pyruvate | Plasma | Pyruvate dehydrogenase complex deficiency |
Acylcarnitines | Plasma | Propionic aciduria, methylmalonic aciduria, glutaric aciduria type 1 |
Amino acids | Plasma | Ornithine transcarbamylase deficiency, maple syrup urine disease, pterin defects |
Homocysteine | Plasma | Homocystinuria |
Copper, ceruloplasmin | Plasma, urine | Wilson's disease |
Manganese | Plasma | Dystonia with brain manganese accumulation |
Biotinidase | Plasma | Biotinidase deficiency |
Creatine, guanidinoacetic acid | Plasma, urine | Cerebral creatine deficiency syndrome 3 (AGAT deficiency), guanidinoacetate methyltransferase deficiency |
Vitamin E (α-tocopherol) | Plasma | Ataxia with vitamin E deficiency |
Uric acid | Plasma | Lesch-Nyhan syndrome |
Cholestanol | Plasma | Cerebrotendinous xanthomatosis |
Glucose | CSF, plasma | GLUT-1 deficiency |
Folate | CSF | Cerebral folate deficiency |
HVA, 5-HIAA | CSF | Tyrosine hydroxylase deficiency |
Pterines | CSF, urine | GTP-cyclohydrolase 1 deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency, aromatic l-amino acid decarboxylase deficiency |
Sepiapterin | CSF | Sepiapterin reductase deficiency |
Performing this set of laboratory investigations is only recommended if obtaining the results of these tests will be faster than NGS testing.
Lumbar puncture seems justified only in selected cases with a high clinical suspicion for these disorders.
AADC, aromatic l-amino acid decarboxylase; AVED, ataxia with vitamin E deficiency; CSF, cerebrospinal fluid; NGS, next-generation sequencing; PDC, pyruvate dehydrogenase complex; PTPS, 6-pyruvoyl-tetrahydropterin synthase.