Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
نویسندگان
چکیده
منابع مشابه
Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
OBJECTIVES Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study aimed to find which organs and/or tissues are most frequently affected by MIMODS, which are the most frequent abnormalities within an affected organ, whether there are typical MIMODS patterns, and to generate an MIMODS s...
متن کاملMultiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder.
Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cat...
متن کاملMitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene☆
We read with interest the article by Fragaki et al. about a 1yo Algerian female with hypertrophic cardiomyopathy, developmental delay, growth retardation, hepatomegaly, failure-to-thrive, general hypotonia, and lactic acidosis, being attributed to the biallelic variants c.1204G > T and c.358delT in the ACAD9-gene encoding for acyl-CoA-dehydrogenase-9, an essential assembly-factor for respirator...
متن کاملmitochondrial disorders and diagnosis
mitochondrial generate cellular energy in the form of atp (adenosine triphosphate) by the process of oxidative phosphorylation (oxphos). most cells contain hundreds of mitochondrial.
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: Neuropsychiatric Disease and Treatment
سال: 2017
ISSN: 1178-2021
DOI: 10.2147/ndt.s149067