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Coenzyme Q10 deficiency information


Coenzyme Q10 deficiency
Other namesLeigh syndrome with nephrotic syndrome
Ubiquinone

Coenzyme Q10 deficiency is a deficiency of coenzyme Q10.

It can be associated with COQ2, APTX, PDSS2, PDSS1, CABC1, and COQ9.[1] Some forms may be more treatable than other mitochondrial diseases.[2]

  1. ^ Online Mendelian Inheritance in Man (OMIM): 607426
  2. ^ Duncan AJ, Bitner-Glindzicz M, Meunier B, et al. (May 2009). "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease". Am. J. Hum. Genet. 84 (5): 558–66. doi:10.1016/j.ajhg.2009.03.018. PMC 2681001. PMID 19375058.

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Coenzyme Q10

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Coenzyme Q10 (CoQ10 /ˌkoʊkjuːˈtɛn/) also known as ubiquinone, is a naturally occurring biochemical cofactor (coenzyme) and an antioxidant produced by...

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Coenzyme Q10 deficiency

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Coenzyme Q10 deficiency is a deficiency of coenzyme Q10. It can be associated with COQ2, APTX, PDSS2, PDSS1, CABC1, and COQ9. Some forms may be more treatable...

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International Coenzyme Q10 Association

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The International Coenzyme Q10 Association is a nonprofit association originally based in Ancona, Italy and currently in Seville, Spain. Since its establishment...

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Statin

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M, Pretorius E, Pepper MS (March 2013). "Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation". Nutrition Reviews. 71...

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Mitochondrial myopathy

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PS607426 - Coenzyme Q10 deficiency - OMIM". omim.org. Retrieved 2023-11-30. "Phenotypic Series - PS252010 - Mitochondrial Complex I deficiency, nuclear...

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Mitochondrion

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nuclear mutations of oxidative phosphorylation enzymes, such as coenzyme Q10 deficiency and Barth syndrome. Environmental influences may interact with...

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Exercise intolerance

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result exercise intolerance. A complex of Coenzyme Q10: One of the metabolic myopathies, Coenzyme Q10 deficiency includes the symptom of exertional fatigue...

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COQ9

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biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency. It may...

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COQ6

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Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural...

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ETFDH

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Lochmüller H, Horvath R (August 2007). "The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein...

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Pyridoxal phosphate

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(PLP, pyridoxal 5'-phosphate, P5P), the active form of vitamin B6, is a coenzyme in a variety of enzymatic reactions. The International Union of Biochemistry...

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Dilated cardiomyopathy

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multicenter study on the safety and efficacy of coenzyme Q10 as adjunctive therapy in heart failure. CoQ10 Drug Surveillance Investigators". Molecular Aspects...

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Glutaric acidemia type 2

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well as some muscle biopsies showing COX-negative fibres and deficiency of coenzyme Q10. Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidemia...

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Enzyme

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carried by coenzyme A formyl, methenyl or methyl groups, carried by folic acid and the methyl group, carried by S-adenosylmethionine Since coenzymes are chemically...

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ADCK3

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kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency". Am. J. Hum. Genet. 82 (3): 661–72. doi:10.1016/j.ajhg.2007.12...

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List of OMIM disorder codes

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CHUK Coenzyme Q10 deficiency; 607426; APTX Coenzyme Q10 deficiency; 607426; CABC1 Coenzyme Q10 deficiency; 607426; COQ2 Coenzyme Q10 deficiency; 607426;...

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Mevalonate pathway

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diverse class of over 30,000 biomolecules such as cholesterol, vitamin K, coenzyme Q10, and all steroid hormones. The mevalonate pathway begins with acetyl-CoA...

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Horse ointment

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skin health, as well as reducing pore size. Horse ointment contains coenzyme Q10, hyaluronic acid, and collagen, which can maintain the natural moisture...

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Autosomal recessive cerebellar ataxia type 1

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vitamin E deficiency. (1000 mg/day for infants and over 5,000 mg/day for adults.) Co Q10 supplementation (300 to 600 mg/day) for coenzyme Q10 deficiency. In...

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Ataxia

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phosphatidylcholine, acetazolamide, 4-aminopyridine, buspirone, and a combination of coenzyme Q10 and vitamin E. Physical therapy requires a focus on adapting activity...

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Respiratory complex I

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bacteria to humans. It catalyzes the transfer of electrons from NADH to coenzyme Q10 (CoQ10) and translocates protons across the inner mitochondrial membrane...

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PDSS1

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"Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency". Lancet. 356 (9227): 391–395. doi:10.1016/S0140-6736(00)02531-9...

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Rhabdomyolysis

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cytochrome c oxidase and coenzyme Q10 Others: glucose-6-phosphate dehydrogenase deficiency, myoadenylate deaminase deficiency and muscular dystrophies...

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Fibromyalgia

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inhibitors, nonsteroidal anti-inflammatory drugs, and muscle relaxants. Q10 coenzyme and vitamin D supplements may reduce pain and improve quality of life...

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Conditions comorbid to autism spectrum disorders

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folinic acid. A vitamin and mineral supplement that includes antioxidants, coenzyme Q10 and vitamins B. Tetrahydrobiopterin. Interestingly, recent DBPC studies...

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