Table 1. Metabolic disorders associated with epilepsy and autism spectrum disorder. DisorderClinical featuresDiagnostic testing Disorders of energy metabolism Mitochondrial disease Developmental regression , gross motor delay, fatigability, ataxia, and gastrointestinal abnormalities • Fasting serum lactate, pyru...
In mild cases, individuals with PA often remain metabolically stable, but may instead experience learning disabilities and autism spectrum disorder, in addition to dilated cardiomyopathy and chronic kidney disease [1,2,3,4,5]. The estimated birth incidence of PA varies by region, ranging 1:1000...
Abbreviations: ASD, autism spectrum disorder; ALT, alanine aminotransferase; AST, aspartate aminotransferase; CK, creatine kinase; GI, gastrointestinal; MD, mitochondrial disease; mtDNA, mitochondrial DNA; nDNA, nuclear DNA. environmentally and iatrogenically induced damage to mitochondria, treat organ ...
“these are partial defects. Mitochondrial dysfunction doesn’t really cause anything, what it does is predisposes towards seemingly everything. It’s one of many risk factors in multifactorial disease. It can predispose towards epilepsy, chronic fatigue, and even autism, but it doesn’t do it a...
A comprehensive literature search was performed to collate evidence of mitochondrial dysfunction in autism spectrum disorders (ASDs) with two primary objectives. First, features of mitochondrial dysfunction in the general population of children with ASD
HIF-1α: Hypoxia-Inducible-Factor HIF-1α COX: Cytochrome C oxidase MAM: Mitochondria-associated ER membrane TSC: Tuberous sclerosis complex PCP: Planar cell polarity ASD: Autism spectrum disorders DS: Down syndrome AD: Alzheimer disease PD: Parkinson’s disease ...
The ketogenic diet (KD) is a therapeutic dietary approach that has been used clinically for several decades to manage symptoms of various diseases, such as epilepsy, autism spectrum disorder, and diabetes.152,153,154The KD works by reducing carbohydrate intake and promoting FAO. The process of ...
endocrine and gastrointestinal systems. The phenotypes of PMD are on a spectrum ranging from prenatal or neonatal onset lethal disease affecting multiple organ systems to adult onset progressive external ophthalmoplegia. The disease onset is in childhood in two-thirds of the individuals with PMD [9,...
Herein, we review the mechanism of mitochondrial dynamics, and its impacts on cellular function. We also delve into the changes that occur in mitochondrial dynamics during health and disease, and offer novel perspectives on how to target the modulation of mitochondrial dynamics....
It belongs to a group of disorders known as autism spectrum disorders (ASDs), which also include Asperger's syndrome and pervasive developmental disorder-not otherwise specified. According to the Centers for Disease Control and Prevention, the prevalence of ASDs in the United States is 1 in 88 ...