mitochondrial disorders and diagnosis

Mitochondrial disorders: Challenges in diagnosis & treatment

Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the mo...

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Biochemical diagnosis of mitochondrial respiratory chain disorders requires caution to avoid misdiagnosis of secondary enzyme defects, and can be improved by the use of conservative diagnostic criteria. Pathogenic mutations causing mitochondrial disorders have now been identified in more than 30 mitochondrial DNA (mtDNA) genes encoding respiratory chain subunits, ribosomal- and t-RNAs. mtDNA mu...

Olfactory disorders: Diagnosis, evaluation, and treatment

The sense of smell, one of the five basic senses that humans have, helps us detect different types of odors. It also plays an important role in the detection of pollutants, toxic gases, or rotten and hazardous foods. Although olfaction is considered less important than the other senses, smell disorders could cause a variety of problems, including reduced taste detection due to the relationship ...

etiology, significance, diagnosis and treatment of bruxiam

چکیده ندارد.

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases.

Mitochondrial disease enters the differential diagnosis of a wide range of CNS and PNS presentations. Respiratory chain ATP production is under bigenomic genetic control. Adult mitochondrial diseases are mainly caused by mutations in mitochondrial DNA (mtDNA), and nuclear gene defects usually present with more severe childhood phenotypes. Recently, mutations in certain nuclear genes--for exampl...

Review Next generation molecular diagnosis of mitochondrial disorders