Ariana Boswell

All articles by Ariana Boswell

• Treatment approach used in TK2d found effective in COQ2 deficiency

  Mouse models and a first-in-human study support the use of 4-hydroxybenzoic acid in primary coenzyme Q deficiency, a study found.

• How does TK2d affect the nervous system?

  In patients with TK2d and central nervous system involvement, imaging studies may reveal brain atrophy.

• Case report: Liver dysfunction may signal mitochondrial disease

  An infant with cholestasis was diagnosed with DGUOK deficiency, a mitochondrial DNA maintenance disorder like TK2d.

• Ketogenic diet may show clinical benefit in mitochondrial disease

  A recent study of the ketogenic diet in children with metabolic disorders showed improvements in symptoms and biochemical markers.

• What is a primary mitochondrial disease?

  Primary mitochondrial diseases can impact one or multiple organ symptoms, and become symptomatic at any age.

• Case report: Newly discovered TWNK gene variant produces similar symptoms to TK2d

  A 63-year old man presented with weakness in the eyes and limbs, ultimately being diagnosed with a Twinkle-related disease similar to TK2d.

• Doxecitine and doxribtimine restores motor milestones in infantile-onset TK2d

  Four infants with TK2d who received doxecitine and doxribitimine through an early access program displayed marked improvements in symptoms.

• PANTHERx Rare to exclusively distribute Kygevvi for TK2d

  Global pharmaceutical company UCB has chosen PANTHERx Rare to distribute doxecitine and doxribtimine for the treatment of TK2d.

• Finding a diagnosis: Diseases that mimic TK2d symptoms

  Making sure your care team is aware of both TK2d and its differential diagnoses is key to proper care.

• Case study: First reported case of TK2d with neuropsychiatric symptoms

  A recent case report describes a 59-year-old woman treated for psychiatric symptoms for over 30 years before being diagnosed with TK2d.