Assessing olfactory functions in patients with Barth syndrome.

Michele Dibattista,Sebastiano Stramaglia,Simona Lobasso,Angela Corcelli,Fernando De Castro

doi:10.1371/journal.pone.0187619

Michele Dibattista, Sebastiano Stramaglia + Show 3 more

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https://doi.org/10.1371/journal.pone.0187619

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Abstract

Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening. The appropriate nutritive support is important to sustain the everyday life of Barth syndrome patients given the chronic fatigue they experience. Since they often prefer salty and fried food, and avoid vegetables and fruits, their eating habit and food preferences do not always provide the proper amount of vitamins and amino acids. It has been indeed reported that Barth syndrome patients have altered taste sensitivity. As olfaction also contributes to food consumption and flavor perception, we decided to investigate their olfactory abilities using the “Sniffin’ sticks’ extended test”. We found no significant difference in any of the tested olfactory abilities between the group of Barth syndrome patients and the healthy controls. In summary, altered food preference of Barth boys could not be easily explained with an altered olfactory perception.

Highlights

Barth syndrome (BTHS) is a life-threatening, X-linked recessive disease characterized by infantile onset of cardiac and skeletal myopathy, neutropenia, growth delay, and increased urinary excretion of 3-methylglutaconic acid [1,2,3]
Our data showed no significant differences in threshold, discrimination and identification scores between controls and BTHS, suggesting that patients performed as healthy subjects
Food preferences and/or eating behavior are driven by olfactory experience

Summary

Introduction

Barth syndrome (BTHS) is a life-threatening, X-linked recessive disease characterized by infantile onset of cardiac and skeletal myopathy, neutropenia, growth delay, and increased urinary excretion of 3-methylglutaconic acid [1,2,3]. Heart failure or severe bacterial infections due to neutropenia by three years of age are currently the most common cause of death [3]. BTHS is caused by loss-of-function mutations of the tafazzin (TAZ) gene, located at Xq28 [4], which lead to the abnormal remodeling of the mitochondrial phospholipid cardiolipin, essential for mitochondrial functions [5,6]. As cardiolipin plays an important role in maintaining correct mitochondrial membrane structure, abnormal mitochondrial morphology and variable energy metabolism dysfunctions have been described in patients with severe BTHS cardiomyopathy [3]

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