Repercusión de los fármacos antiepilépticos en la edad pediátrica sobre los niveles plasmáticos de homocisteína, ácido fólico y vitamina B12 y su relación con la mutación C677T del gen para la metilentetrahidrofolato reductasa (MTHFR)

hiperhomocisteinemia. En adultos la hiperhomocisteinemia es más frecuente entre los portadores homocigotos de la mutación C677T de la metilentetrahidrofolatoreductasa (MTHFR). Se analiza la repercusión de los FAES sobre la concentración de homocisteína, ácido fólico y vitamina B12 así como la influencia del polimorfismo C677T de la MTHFR sobre las mismas en niños tratados con FAES. Se observa que los FAES se asocian con hiperhomocisteinemia en niños. El tratamiento con carbamazepina se asocia con disminución del folato sérico. Los FAES no disminuyen los niveles séricos de vitamina B12. El estado homocigoto para la mutación C677T de la MTHFR incrementa el riesgo de desarrollar hiperhomocisteinemia en niños tratados con FAES

Growth in children and adolescents with mitochondrial diseases

There is evidence that children with mitochondrial diseases tend to have short stature, but the growth of these patients has not been assessed in detail. We calculated the standard deviation (SD) of height, weight and body mass index (BMI) of 58 children and adolescents between the ages of 1.5 months and 18 years with a proven diagnosis of mitochondrial diseases. Overall, 31.03% of recorded heights, 29.31% of weights and 39.65% of BMIs were more than 2SD below the mean. In the group of children with encephalomyopathic forms of mitochondrial diseases, 34.09% of heights and weights, and 43.18% of BMIs were more than 2SD below the mean, while in the group with myopathic forms 21.42% of weights, 14.28% of heights and 28.57% of BMIs were more than 2SD below the mean. These results suggest that mitochondrial diseases are an important cause of short stature and of reduction in BMI in children and adolescents, particularly the encephalomyopathic forms