Laboratory diagnostic approaches in metabolic disorders

the laboratory diagnosis of inherited metabolic disorders

diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...

Hereditary red cell membrane disorders and laboratory diagnostic testing.

This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in th...

Advancing Diagnostic Approaches for TMJ Diseases and Disorders

Metabolic phenotyping and systems biology approaches to understanding neurological disorders

The development of high-throughput metabolic profiling and the study of the metabolome are particularly important in brain research where small molecules or metabolites play fundamental signalling roles: neurotransmitters, signalling lipids, osmolytes and even ions. Metabolic profiling has shown that metabolic perturbations in the brain go beyond alterations of neurotransmission and that variat...

Laboratory diagnostic methods of malaria infection

Malaria is one of the most important tropical infectious diseases. The incidence of malaria worldwide is estimated to be 300–500 million clinical cases each year with a mortality of between one and three million people worldwide annually. The accurate and timely diagnosis of malaria infection is essential if severe complications and mortality are to be reduced by early specific antimalarial tre...