Biochemical Investigations for Neurometabolic Diseases in the Future: Biochemistry versus Molecular Genetics

New achievements of molecular as well as of analytical biochemical diagnostics revolutionize the diagnostics of neurometabolic diseases. Molecular diagnostics change from single gene analyses to whole-exome or genome sequencing. Improved biochemical methods allow comprehensive and quantitative multi-component analyses, analogous to genetic panels. Biochemical analyses are performed timely, reliably and quality controlled. The results allow prompt responses including the initiation of specific therapies often significantly before the molecular defect is unraveled. Biochemical results are also indispensable for interpretation and possibly verification of genetic variants and allow a higher detection rate in next generation sequencing. The most important requirements for a timely and complete diagnostic workup are, which remain precise and comprehensive and detailed clinical investigations, radiological, clinical, chemical, and biochemical analyses, that is, deep phenotyping. Only this allows decryption and interpretation of genetic variants whose investigations should be initiated in parallel.