| Human Coenzyme Q10 Deficiency(PDF Format) Abstract Ubiquinone (coenzyme Q10 or CoQ10) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of CoQ10 (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may be related to the multiple steps in CoQ10 biosynthesis. Patients with all forms of CoQ10 deficiency have shown clinical improvements after initiating oral CoQ10 supplementation. Thus, early diagnosis is of critical importance in the management of these patients. This year, the first molecular defect causing the infantile form of primary human CoQ10 deficiency has been reported. The availability of genetic testing will allow for a better understanding of the pathogenesis of this disease and early initiation of therapy (even presymptomatically in siblings of patients) in this otherwise life-threatening infantile encephalomyopathy. |
Lipophilic antioxidants in patients with phenylketonuria1-3 (PDF Format) Background: Low serum ubiquinone-10 concentrations have been described in phenylketonuric patients fed natural-proteinrestricted diets. Such low concentrations may be related to increased free radical damage.
Objective: We evaluated the relation between low serum ubiquinone-10 concentrations and other lipophilic antioxidants (tocopherol and retinol), selenium, glutathione peroxidase activity, and malondialdehyde concentrations as a marker of lipid peroxidation. |
DrugDigest - Coenzyme Q10 Coenzyme Q-10 is used extensively in Japan, and its use is more common in Europe and western Asia than it is in the United States. However, specific coenzyme Q-10 products have been given orphan drug status in the United States. An orphan drug has received FDA approval because it shows effectiveness for treating severe or rare diseases that usually have few other treatment options. |
Coenzyme Q10 Coenzyme Q10 is a vitamin-like substance used in the treatment of a variety of disorders primarily related to suboptimal cellular energy
metabolism and oxidative injury. Studies supporting the efficacy of
coenzyme Q10 appear most promising for neurodegenerative disorders
such as Parkinson’s disease and certain encephalomyopathies
for which coenzyme Q10 has gained orphan drug status. |
The Spectrum of Mitochondrial DiseaseThis article is a brief update on mitochondrial biology for primary care physicians, genetic counselors, and other health care professionals who may find themselves involved in the care of children with mitochondrial disease and their families. |
The Role of Nutrition in Mitochondrial and Metabolic DiseasesNutrition plays a vital role in the multidisciplinary management of mitochondrial and metabolic diseases. Depending on the pathophysiology and biochemistry of the disease, nutritional therapy can encompass single nutrient manipulations, vitamin supplementation and/or alternative routes of feeding. |
Mitochondrial cytopathy in adults: What we know so far Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications), and the aging
process itself. In addition, a number of well-described
diseases can decrease mitochondrial energy production;
these include hyperthyroidism, hypothyroidism, and
hyperlipidemia. |
| Diagnosis and Treatment of Childhood Mitochondrial DiseasesMitochondria are important in cellular metabolism and transport, and function in a variety of degradative and synthetic
functions. Mitochondria participate in the process of
oxidative phosphorylation (OXPHOS), the transformation
of energy (from the breakdown of nutrients) in the presence
of oxygen to adenosine triphosphate (ATP). |
