TY - JOUR
T1 - Effects of riboflavin in children with complex II deficiency
AU - Bugiani, Marianna
AU - Lamantea, Eleonora
AU - Invernizzi, Federica
AU - Moroni, Isabella
AU - Bizzi, Alberto
AU - Zeviani, Massimo
AU - Uziel, Graziella
PY - 2006/10
Y1 - 2006/10
N2 - Isolated complex II deficiency is a rare cause of mitochondrial disease in infancy and childhood. No satisfactory treatment is currently available, and affected patients undergo a relentlessly progressive motor and mental deterioration. We report on three complex II-deficient children treated with riboflavin per os, who were followed-up for a mean period of 4.5 years. In two patients with early-onset leukoencephalopathy, neurological condition remained stable or even moderately improved. In the third child, presenting in the first year of life with poor somatic growth and severe hyperlactacidemia, plasma lactate decreased to near-normal levels, and he did not develop signs of neurological involvement. Riboflavin supplementation to the growth medium of cultured fibroblasts resulted in a 2-fold increase of complex II activity in patients, but not in controls.
AB - Isolated complex II deficiency is a rare cause of mitochondrial disease in infancy and childhood. No satisfactory treatment is currently available, and affected patients undergo a relentlessly progressive motor and mental deterioration. We report on three complex II-deficient children treated with riboflavin per os, who were followed-up for a mean period of 4.5 years. In two patients with early-onset leukoencephalopathy, neurological condition remained stable or even moderately improved. In the third child, presenting in the first year of life with poor somatic growth and severe hyperlactacidemia, plasma lactate decreased to near-normal levels, and he did not develop signs of neurological involvement. Riboflavin supplementation to the growth medium of cultured fibroblasts resulted in a 2-fold increase of complex II activity in patients, but not in controls.
KW - Complex II deficiency
KW - Leukoencephalopathy
KW - Mitochondrial disorders
KW - Riboflavin
UR - http://www.scopus.com/inward/record.url?scp=33747879021&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33747879021&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2006.04.001
DO - 10.1016/j.braindev.2006.04.001
M3 - Article
C2 - 16737791
AN - SCOPUS:33747879021
VL - 28
SP - 576
EP - 581
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 9
ER -