Extractions: Carnitine Distribution: 90% in muscle Fatty acids are transported from cytoplasm to mitochondria Mitochondrial oxidation of fatty acids provides energy source Chief energy sources for: Prolonged fasting; Skeletal muscle during exercise; Cardiac muscle Types of deficiency Loss of carnitine results in Clinical features: General Specific enzyme defects can include
Barth Syndrome Information Diseases Database barth syndrome,CardiomyopathyNeutropenia syndrome,3-Methylglutaconic aciduria type 2, Disease Database Information. http://www.diseasesdatabase.com/ddb29297.htm
BARTH SYNDROME (OMIM 302060) United Kingdom barth syndrome (OMIM 302060) United Kingdom. symptoms useful links medical literature on barth syndrome. International conference about barth syndrome. http://www.wapenveld.com/BarthSyndroom/unitedkingdom.html
Extractions: United Kingdom symptoms useful links medical literature on Barth Syndrome The next international conference about Barth Syndrome will take place in Baltimore, Maryland, Unites States, at October 18-22, 2002. This conference will be organized by the Barth Syndrome Foundation Inc. in co-operation with the Kennedy Krieger Institute of the Johns Hopkins University. More information at www.barthsyndrome.org Barth Syndrome is a rare but serious genetic disorder, that affect males. The characteristics (signs and symptoms) of Barth Syndrome consist of the following in varying degrees: www.barthsyndrome.org
Extractions: Neutropenia Weakness in the immune system, specifically a reduction in the number of "neutrophils", a type of white blood cell that is most important for fighting bacterial infections. Neutropenia places Barth boys at an increased risk of acquiring serious infections such as bacterial pneumonia and skin abscesses.
Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition Barth syndrome is a rare disease This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp . A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Click the link for more information. caused by a sex-linked Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. (In avian species (such as chickens), which have Z and W chromosomes, sex-linked genes are on the Z chromosome, and "male" and "female" are exchanged.) The recessive phenotypes of such genes are more common in males than in females; to be precise, the incidence in females is the square of that in males, so if 1/20 of the male population is green-blind, 1/400 of the female population is. (AIS does not follow this rule because it interferes with reproduction.)
Barth Syndrome barth syndrome. barth syndrome is a rare disease caused by a sexlinked mutation. It was discovered by Dr. Peter Barth in the Netherlands. http://www.fact-index.com/b/ba/barth_syndrome.html
Extractions: Main Page See live article Alphabetical index Barth syndrome is a rare disease caused by a sex-linked mutation. It was discovered by Dr. Peter Barth in the Netherlands . The symptoms are weakness of the striated muscles , both skeletal and cardiac ; weakness of the immune system ; and failure to thrive. Barth boys often die before they are five years old, but if they survive past that age, they are not likely to die from it. External link: http://www.barthsyndrome.org/
Extractions: Alstrom Syndrome ... Rare Disorders : Barth Syndrome 2004 Barth Syndrome International Family and Scientific Conference - Congress, Title: 2004 Barth Syndrome International Family and Scientific Conference. Date: July 08, 2004 - July 12, 2004. City: Lake Buena Vista. Abnormal cardiolipin and phosphatidylglycerol remodeling in barth ... - Abnormal cardiolipin and phosphatidylglycerol remodeling in barth syndrome Vreken P, Valianpour F, Grivell LA, Nijtmans LG, Wanders RJA, Barth PG Academic Alpers Disease,Progressive Infantile Poliodystrophy,Barth syndrome ... - Alpers Disease,Progressive Infantile Poliodystrophy,Barth syndrome,Cardiomyopathy-Neutropenia Syndrome/Lethal Infantile Cardiomyopathy,LIC,Beta-oxidation Barth Syndrome - The heart diseases the Pediatric Cardiology Research Laboratories are currently investigating are ARVD, barth syndrome, brugada, syndome, dilated cardiomyopathy Barth Syndrome - Barth syndrome is a genetic disorder that appears to occur exclusively in males. National Organization for Rare Disorders, Inc. Barth Syndrome. Barth Syndrome - HOME. Barth Syndrome (Cardiomyopathy, X Linked, Fatal Infantile; Cardioskeletal Myopathy-Neutropenia). The Barth Syndrome Foundation, Inc.
Disease Directory : Barth Syndrome Diseases Rare Disorders barth syndrome barth syndrome. Directory Listing. National Organization for Rare Disorders, Inc. barth syndrome. http://www.diseasedirectory.net/detailed/27592.aspx
Barth Syndrome barth syndrome. Disorder Subdivisions. None. General Discussion. barth syndrome is a genetic disorder that appears to occur exclusively in males. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord1116
Barth Syndrome Medical Wisdom Health Advice And Information Health Concerns. barth syndrome Information Page. barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. http://medicalwisdom.com/health/disorders/barth.htm
Extractions: Barth syndrome is a rare congenital metabolic and neuromuscular disorder that affects boys. It is passed from mother to son through the sex-linked, or X, chromosome. Symptoms affect multiple systems of the body and may include changes to metabolism, motor delays, hypotonia (reduced muscle tone), delayed growth, cardiomyopathy (leading to a poorly functioning heart), weakened immune system, chronic fatigue, lack of stamina, hypoglycemia (low blood sugar), mouth ulcers, diarrhea, and varying degrees of physical and learning disability. Boys with the disorder also have fewer white blood cells (a condition called neutropenia), which may lead to an increased risk for serious bacterial infections. Barth syndrome affects at least 50 families worldwide, but there is evidence that it is underdiagnosed. On average 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will have symptoms. All daughters born to an affected male will be carriers. Is there any treatment?
Health Library - barth syndrome. Synonyms Disorder Subdivisions General Discussion Resources barth syndrome is a genetic disorder that appears to occur exclusively in males. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Rare Disorders, Barth Syndrome Submit Your Site to the barth syndrome category. Sponsored barth syndrome Sites. Submit Your Site to the barth syndrome category. Health Spotlight. http://www.iseekhealth.com/barth_syndrome-2195.php
Rare Disorders, Barth Syndrome » Submit your URL to iSeekHealth.com. iSeekHealth Website Submission Forms Take advantage of iSeekhealth s low cost, onetime website http://www.iseekhealth.com/index.php?method=show_submit_site&directory_id=2195
OMIM - #302060 BARTH SYNDROME; BTHS 302060 barth syndrome; BTHS. TEXT. A number sign ( ) is used with this entry because barth syndrome is caused by mutation in the tafazzin gene (TAZ; 300394). http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=302060
Barth Syndrome Trust barth syndrome Trust. Registered Charity Number 1100835. What is barth syndrome? barth syndrome is a rare and serious genetic disorder http://www.users.dialstart.net/~damin/
Extractions: Barth Syndrome Trust Registered Charity Number 1100835 Bosnian Cirilica Deutsch Español ... Vlaams Barth syndrome is a rare and serious genetic disorder that manifests itself in the following ways: Cardiomyopathy Heart failure or heart muscle weakness Neutropenia weakness in the immune system (specifically reduced neutrophils, a type of white blood cell used in fighting bacterial infections) Muscle Weakness and General Fatigue Growth Delay Early diagnosis is key to survival for those who have Barth syndrome . Those who are not accurately diagnosed have only a 30% chance of living past the first few years of life. With proper diagnosis at an early age, they have an 85% - 90% chance of survival. This is why awareness of Barth syndrome is so important. List of which perform Barth Syndrome testing. The Barth Syndrome Trust has now been created in the United Kingdom (Registered Charity Number 1100835) in order to better serve the needs of affected families here in the UK and in the rest of Europe. An affected family in the UK may have certain specific needs that cannot always be fully met unless it is through a regional organisation that understands these issues.
Bmycharity - Barth Syndrome barth syndrome. When you or your child is diagnosed with a rare disorder like barth syndrome, it can be a very isolating and frightening experience. http://www.bmycharity.com/barthsyndrome
ORPHANET® Barth Syndrome ORPHANET. Orphanet database access. barth syndrome. Direct access to data barth syndrome seems to be very rare, however it seems to occur in all ethnic groups. http://www.orpha.net/static/GB/barthsyndrome.html
Extractions: helpful? yes no Barth syndrome is a very rare genetic disorder, which only affects males. The most serious problems in Barth syndrome are heart muscle weakness (see entry, Cardiomyopathy ) and increased susceptibility to bacterial infections. This susceptibility is caused by a reduction in the number of certain white blood cells, called neutrophils. Neutrophil numbers often vary with time in this condition and patients are said to have 'cyclical neutropenia.' Other features include short stature and muscle weakness, which can lead to fatigue or delayed motor development in early childhood. Analysis of urine usually shows increased quantities of certain organic acids (3-methylglutaconic and, sometimes, 2-ethylhydracrylic). The features of Barth syndrome vary between different families and even within the same family, but all patients develop cardiomyopathy within the first year. Typical early features are laboured breathing and poor feeding due to breathlessness ('heart failure'). Often the heart failure can be controlled by drug treatment but, in a few patients, heart transplantation may need to be considered. A few patients die suddenly, before they are diagnosed, perhaps due to a disturbance of the heart's rhythm. Other patients may die because of overwhelming infections. Barth syndrome is caused by mutations in a gene called G4.5. This gene is located on the X chromosome (Xq28). Ultimately, the genetic abnormality impairs the ability of cells to produce energy. At the cellular level, the problem is mediated by abnormalities in a protein called a tafazzin and by decreased production of a fat called cardiolipin.
