PMID: 11898515Mar 20, 2002Paper

Diagnosis and treatment of childhood mitochondrial diseases

Current Neurology and Neuroscience Reports
A L Gropman

Abstract

Mitochondrial cytopathies are caused by genetic alterations of nuclear- or mitochondrial-encoded genes involved in the synthesis of subunits of the electron transport chain. Mutations of mitochondrial DNA are associated with a wide range of clinical presentations [1-4]. The ubiquitous nature of mitochondria and the role of the mitochondria in cellular metabolism result in the potential for any tissue in the body to be affected [5-7,8..,9]. Although some children with mitochondrial disease present with life-threatening lactic acidosis in the newborn period, the majority of children come to clinical attention for nonspecific problems, including failure to thrive, developmental delay, seizures, hypotonia, and loss of developmental milestones. The diagnosis of these disorders is made through careful clinical evaluation, coupled with biochemical, morphologic, and molecular biologic techniques. Genetic counseling is difficult due to unique aspects of mitochondrial genetics. Despite advances in our understanding of mitochondrial biochemistry and genetics, treatment options remain limited.

References

Dec 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·J HayashiI Nonaka
Nov 1, 1989·Metabolism: Clinical and Experimental·P W Stacpoole
Apr 9, 1981·Nature·S AndersonI G Young
May 24, 1995·Biochimica Et Biophysica Acta·L Ernster, G Dallner
May 16, 1994·Biochemical and Biophysical Research Communications·N G LarssonD A Clayton
Jan 1, 1993·Journal of Neuropathology and Experimental Neurology·M SparacoJ M Powers
Jul 1, 1996·Annals of Neurology·S DiMauro, D C De Vivo
Apr 1, 1996·European Journal of Pediatrics·A MunnichP Rustin
Oct 1, 1996·Nature Medicine·D R Johns
Jan 1, 1996·Journal of Inherited Metabolic Disease·J M MedinaJ Martín-Barrientos
Oct 1, 1996·Current Opinion in Neurology·C T Moraes
Mar 4, 1998·Neurology·S SaitohM Imai
Mar 12, 1998·Italian Journal of Neurological Sciences·P M Matthews, T Taivassalo
May 5, 1998·Neurology·T TaivassaloD L Arnold
Jun 20, 1998·Neurology·T H VuD C DeVivo
Nov 20, 1998·Journal of Inherited Metabolic Disease·J P HarpeyV Cormier-Daire
Dec 5, 1998·American Journal of Human Genetics·J LoeffenL van den Heuvel
Dec 5, 1998·American Journal of Human Genetics·V TirantiM Zeviani
Mar 12, 1999·Annual Review of Medicine·D K Simon, D R Johns
Feb 5, 2000·The Journal of Pediatrics·P de Lonlay-DebeneyA Munnich
Feb 25, 2000·Brain : a Journal of Neurology·S RahmanJ V Leonard
Mar 15, 2000·Seminars in Neurology·J M Shoffner
Aug 1, 1951·Journal of Neurology, Neurosurgery, and Psychiatry·D LEIGH

❮ Previous
Next ❯

Citations

Oct 30, 2012·Nature·Masahito TachibanaShoukhrat Mitalipov
Oct 12, 2010·Pediatric Neurology·Jacek PilchAleksander L Sieroń
Apr 29, 2008·Clinical Neurology and Neurosurgery·Richard M Zoraster, Richard A Rison
Mar 29, 2006·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·S R MordekarP S Baxter
May 9, 2007·Bioscience Reports·Rosalba CarrozzoFilippo M Santorelli
Jan 22, 2004·American Journal of Medical Genetics. Part a·Andrea GropmanLee-Jun C Wong
Feb 3, 2016·Epidemiology and Infection·G Bencskó, T Ferenci
May 13, 2004·Journal of Neurosurgery·Sergio SabattaniFrancesco Chiodo
Nov 23, 2019·World Journal of Cardiology·Nerea Jimenez-Tellez, Steven C Greenway
May 28, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Samuel A CrawfordJoel W Hay

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.