Inherited metabolic disorders (IMDs) are debilitating inherited diseases, with phenotypic,
biochemical and genetic heterogeneity, frequently leading to prolonged diagnostic …

Phenomics is the comprehensive study of phenotypes at every level of biology: from
metabolites to organisms. With high throughput technologies increasing the scope of …

Given the rapidly decreasing cost and increasing speed and accessibility of massively
parallel technologies, the integration of comprehensive genomic, transcriptomic, and …

Mitochondrial disorders are among the most severe metabolic disorders wherein patients
suffer from multisystemic phenotypes, often resulting in early death. 1 Clinical, biochemical …

Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited
metabolic disorders. While individually rare, the combined incidence of these diseases …

Inherited metabolic disorders, also referred to as inborn errors of metabolism (IEM), are a
group of congenital disorders caused by mutation in genomic or mitochondrial DNA. IEM are …

What next? The Human Genome Project signifies complexity rather than simplification in the
relationship between genotype and phenotype. Genotypes are embedded in genomes …

Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical …

Mutation analysis in metabolic and other genetic) disease: how soon, how useful Page 1
REVIEW Charles R. Scriver Mutation analysis in metabolic and other genetic) disease: how …

Thus, even though the establishment of an IEM diagnosis is supported by clinical suspicion
and biochemical investigations, genetic investigations also play a significant role. Genetic …