Abnormal growth in mitochondrial disease

AIM: To review the height and weight of children with mitochondrial disease attending our supra-regional service. METHODS: This was a retrospective audit of cross-sectional data. Height and weight measurements were available in 24 children and adolescents (median 7.86 years; range 1.76-20.5 years) who all had a confirmed diagnosis of mitochondrial disease. Values were converted to SD scores using UK reference data. RESULTS: Patients with mitochondrial disease were short with an overall SD score of -1.97 (95% confidence intervals -2.72 to -1.23 SD). Patients were also thin with a relatively low BMI SDS of -1.07 (95% confidence intervals -1.69 to - 0.07 SD), which fell with advancing years (r =-0.7; p < 0.000). CONCLUSION: Short stature and a progressive reduction in body mass index (BMI) are features of mitochondrial disease in childhood. The mechanisms underlying the abnormal growth in these patients need to be studied in more detail.