Disease Information for Barth Syndrome/3 MethylGlutoconic aciduria/MGA II

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Clinical Manifestations
Signs & Symptoms
Cardiomegaly/Heart dilatation
Progressive cardiac enlargement/cardiomegaly/sign
Poor weight gain/child
Acute Motor Weakness
Hypotonia
Muscle tone/decreased
Muscle weakness
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Fatigability
Slow Motor Development
Dyspnea on exertion
Recurrent URI/Colds/LRI infections
Chronic Fatigue
Fatigue
Fatigue Tiredness Exhaustion
Short stature
Short stature Child
Weakness
Typical Clinical Presentation
Presentation/Cardiomegaly/Myopathy/neutropenia child
Clinical Presentation & Variations
Presentation/Clinical Features Variable Multisystem
Presentation/Recurrent respiratory infections
Presentation/Congestive heart failure Child
Disease Progression
Course/Chronic disorder
Onset/Infancy
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Heart disease
Family history/Muscle disease/Muscular dystrophy
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Children/all
Population/Infant
Population/Male
Population/Male-only/limit
Population/Old child
Population/Preschool child/boy
Laboratory Tests
Abnormal Lab Findings (Non Measured)
3-MethylGlutaconic acid levels increased
URINE 3 MethylGlutaconic Acid levels increased
URINE 3-Methylcrotonylglycine
Abnormal Lab Findings - Decreased
WBC
Neutrophiles (Lab)
WBC/White Blood Cell Count/Leukocytes (Lab)
Diagnostic Test Results
X-RAY
Xray/Cardiomegaly/neonate/Chest
Xray/Large heart shadow/Chest
Associated Diseases & Rule outs
Associated Disease & Complications
Bacterial diseases
Bacterial infection, general
Barth Syndrome
Cardiomyopathy
Cardiomyopathy, dilated
Cognitive/learning disability
Congestive heart failure
Growth retardation/failure
Infections
Myopathy
Myopathy/secondary/nonspecific
Pneumonia
Pneumonia of newborn
Pneumonia, bacterial
Heart Failure in a Child
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Heart disorder (ex)
CLASS/Muscle disorder (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene locus Xq28
Pathophysiology/Variable course subsets/severe/mild
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Genetic expressivity variable (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
Synonyms
Synonym
3 MethylGlutoconic aciduria MGA II, Barth Syndrome, Synonym/3-Methylglutaconic Aciduria type II (MGA2), Synonym/Cardioskeletal myopathy/Barth Type, Synonym/Cardioskeletal myopathy/Neutropenia/Mitochondrial defect, Synonym/Endocardial fibroelastosis type II (EFE2), Synonym/X-linked Cardioskelketal Myopathy and neutropenia
Definition

Barth Syndrome; 3-Methylglutaconic Aciduria, Type II (MGA, Type II); Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria; Cardioskeletal Myopathy, Barth Type ;

Endocardial Fibroelastosis, Type 2 (EFE2); X-Linked Cardioskeletal Myopathy and Neutropenia;

Barth syndrome is a genetic disorder that appears to occur exclusively in males; Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course may vary considerably, even among affected members of the same family (kindred); Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils) that help to fight bacterial infections (known as neutropenia); and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, particularly 3-methylglutaconic acid (3-methylglutaconic aciduria/acidemia); In most individuals with Barth syndrome, weakening of the heart muscle (myocardium) leads to enlargement (dilation) of the heart"s lower chambers (ventricles); Known as dilated cardiomyopathy, signs of this condition are often present at birth (congenital) or may appear during the first months of life. Dilated cardiomyopathy typically leads to weakening of the heart"s pumping action, causing a limited ability to circulate blood to the lungs and the rest of the body (heart failure); Symptoms of heart failure may depend on the child"s age and other factors. In young children, for example, heart failure may be manifest as fatigue and shortness of breath (dyspnea) with exertion.

Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia) and muscle weakness, often leading to delays in the acquisition of gross motor skills; In addition, affected infants and children may fail to grow and gain weight at the expected rate (failure to thrive); may have mild learning disabilities, (although they usually are of normal intelligence); and, in many cases, may be prone to recurrent bacterial infections due to low levels of circulating neutrophils in the blood; Without prompt detection and appropriate treatment, heart failure and bacterial infections can be life-threatening complications; Barth syndrome is transmitted as an X-linked recessive trait. A gene responsible for the disorder has been located on the long arm (q) of chromosome X (Xq28)

----------[NORD 2005]---------------

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External Links Related to Barth Syndrome/3 MethylGlutoconic aciduria/MGA II
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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