Unusual recovery of respiratory chain complex-III deficiency upon G-tube feeding and a cocktail
نویسندگان
چکیده
منابع مشابه
Unusual recovery of respiratory chain complex-III deficiency upon G-tube feeding and a cocktail
Letter to the Editor With interest we read the article by Mori et al. about a 7 year old male with respiratory-chain complex-III-deficiency due to a 9 bpdeletion in the cytb gene, which initially manifested with failure to thrive, vomiting, diarrhea, constipation, weight-loss, fatigue, exerciseintolerance, muscle weakness, metabolic acidosis, and creatine-kinase elevation and who recovered almo...
متن کاملMaternal smoking is associated with mitochondrial DNA depletion and respiratory chain complex III deficiency in placenta.
Maternal smoking during pregnancy is often associated with a decrease in placental function, which might lead to intrauterine growth retardation. Because tobacco is known to alter the mitochondrial respiratory function in cardiomyocytes and lung tissue, we hypothesized that placental mitochondrial function could be altered by maternal smoking. Placental mitochondria from 9 smoking and 19 nonsmo...
متن کاملRespiratory chain complex III deficiency in patients with tRNA-leu mutation.
The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotometrically measured. The entire mitochondr...
متن کاملAdult, isolated respiratory chain complex IV deficiency with minimal manifestations.
OBJECTIVES Isolated complex IV (cytochrome c oxidase) deficiency is one of the most frequent respiratory chain defects in mitochondrial disorders (MIDs) and usually occurs together with severe pediatric or rarely adult multisystem disease. Here we report an adult with isolated complex IV deficiency with unusually mild clinical manifestations. CASE REPORT A 50-year-old man had developed genera...
متن کاملAutism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
Autism is the prototype of generalized developmental disorders or what today are called autism spectrum disorders. In most cases it is impossible to detect a specific etiology. It is estimated that a causative diagnosis may be shown in approximately 10-37% of the cases, including, congenital rubella, tuberous sclerosis, chromosome abnormalities such as fragile X syndrome and 22q13.3 deletion sy...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2016
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2016.04.005