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Barth syndrome
Background
Barth syndrome is a genetic disease, which only affects males. The most serious problems are heart muscle weakness (see entry Cardiomyopathies) and neutropenia (low numbers of white blood cells called neutrophils), leading to bacterial infections. The disease is very variable: many boys will develop heart failure as neonates or infants but this may also develop in the womb (causing recurrent late miscarriage or stillbirth). However, some patients may simply have weak muscles and others are never neutropenic. The disease may be confused as a mitochondrial disease (see entry Mitochondrial Cytopathies and Related disorders) where no genetic cause can be found.
Other features include growth delay, muscle weakness, lethargy, fatigue, delayed motor milestones, poor feeding, hypoglycaemia (low blood sugar), lactic acidosis (excess lactic acid in the blood), excess of a chemical called 3-methylglutaconic acid in urine and cardiac rhythm problems.
