3-Methylglutaconic aciduria with normal hydratase (type 2). Barth syndrome
Incidence
X-linked form, reported in less than 50 patients. 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).
Clinical Characteristics
Barth syndrome is a metabolic disorder characterized by a cardiomyopathy of the dilated type, more rarely of the hypertrophic type, neutropenia, skeletal myopathy, diminished statural growth and 3-methylglutaconicaciduria. However the clinical presentation can be of variable expression. Presentation can be slowly progressive or sudden. In most cases, the disease is manifest in infancy. The most common initial presentation is cardiac failure. Barth syndrome seems to be very rare, however it seems to occur in all ethnic groups. After clinical and biochemical characterization of Barth syndrome, the causative gene was mapped to Xq28. This condition present with cardiomyopathy and neutropenia. Failure to thrive, anemia, diarrhea, pancytopenia, low cholesterol.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Low cholesterol, GC/MS