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Feeding Problems and Diarrhoea

Feeding problems, affecting intake of milk and solids 

Failure to thrive 

Requirement for nasogastric or gastrostomy feeding 

Unexplained episodic diarrhoea

One of the most common features of Barth Syndrome (although still very poorly recognised) is poor food intake, especially during the early years and later in adolescence. Doctors and dieticians will often become concerned if a boy progressively falls off his growth centiles after identification of heart failure/infections, worrying that poor feeding and growth may worsen their ability to cope with these health challenges. These concerns will be heightened if there has also been a history of hypoglycaemia. This may result in medical staff recommending supplemental tube feeding via a nasogastric tube or gastrostomy tube (a small plastic tube inserted surgically through the abdominal wall into the stomach), with top-up feeds, overnight feeds or continuous daytime feeds via an infusion pump - aiming to feed the patient up to a desired weight or percentile closer to their birth percentile.

Unfortunately, this approach is often unsuccessful, as boys with Barth Syndrome have a tendency to vomit if they are fed excessively and can be difficult to force to gain weight. We try to avoid tube feeding where possible since long-term use of nasogastric or gastrostomy tubes can reduce a boy's own drive to eat and so result in long term dependence on tube feeding. However, many patients will still require them at some stage during their life. If tube feeding is required, feeding plans are designed to reflect normal eating patterns, and to encourage and maintain oral eating where possible.

Many boys with this disease also show distinct food fads, especially for very savoury foods such as pickles, olives or nuts and for very salty foods such as multiple packs of crisps.

Mitochondrial vitamin cocktails (co-enzyme Q10, vitamin E, vitamin C) and L-carnitine are not useful for Barth Syndrome, and L-carnitine may be harmful. We do recommend some vitamin supplementation on an individual basis, following dietary assessment.

EPISODIC DIARRHOEA is also common. This can occur in other neutropaenic diseases due to low-grade inflammation of the colon (colitis), but this has never been shown to be the cause in Barth Syndrome. Unusual susceptibility to viral infections has also not been shown to be responsible. Unfortunately, frequent diarrhoea may increase the risk of perianal infection.

During periods of protracted diarrhea, special attention needs to be given to boys with Barth Syndrome. The boys' reduced muscle mass limits their nutritional reserve, and salts, particularly potassium, can become rapidly depleted. Care should also be taken if additional potassium is given to correct this, as the reduced muscle mass means the boys are not able to store any excess potassium, so they may become hyperkalaemic (have an excessively high potassium level).