PATIENT CASE
A 16-year old female presents in the ER with1:
- Severe leg pain and weakness
- Elevated CK
- History of exercise intolerance
Diagnosis: VLCAD (Very long-chain acyl-CoA dehydrogenase deficiency)
Have you seen this patient?
Refer to a metabolic geneticist for work-up and further investigation.
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LC-FAOD can affect multiple organs and tissues, and despite early detection and management, LC-FAOD mortality rates tend to remain high7.
LC-FAOD include the following types5:
- VLCAD (Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency)
- LCHAD (Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency)
- CPTI (Carnitine palmitoyltransferase I (CPT I) deficiency)
- CPTII (Carnitine palmitoyltransferase II (CPT II) deficiency)
- TFP Trifunctional protein (TFP) deficiency
- CACT (Carnitine-acylcarnitine translocase (CACT) deficiency)
ACUTE EPISODES of long chain fatty-acid oxidation disorders may lead to hospitalization, emergency room visits, emergency treatment interventions, and sudden death6-8. These acute episodes:
- Can often involve rhabdomyolysis, cardiomyopathy, or hypoketotic hypoglycemia2,6
- Are usually triggered by illness or fasting, but they may occur spontaneously and unpredictably in some LC-FAOD types, with long-lasting implications2,3,6
CHRONIC SYMPTOMS of fatigue, muscle pain, and weakness may lead patients to experience lifestyle limitations, as well as significant morbidities and life-threatening complications 6,7,9: These symptoms:
- Arise or are exacerbated during catabolic situations, such as fasting, illness, and endurance exercise2,3,6
- Are chronic and progressive manifestations resulting from prolonged energy deficiency and tissue/vital organs fatty acid accumulation,6,7
A SPECTRUM OF PRESENTATIONS
- Although symptoms can appear within a few hours of birth, they may also not appear until later in life. They can evolve over time and may differ depending on when they appear2,10-11
- Onset of symptoms in patients can be rapid and unpredictable.12-13
- CACT (Carnitine-acylcarnitine translocase (CACT) deficiency)
References:
- Topçu Y, Bayram E, Karaoğlu P, Yis U, and Kurul SH. Ann Indian Acad Neurol. 2014;17(4):437-440 C
- Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Rev Endocr Metab Disord. 2018;19(1):93-106.
- Wajner M, Amaral AU. Biosci Rep. 2015;36(1):e00281.
- Lindner M, Hoffmann GF, Matern D. J Inherit Metab Dis. 2010;33(5):521-526.
- Wanders RJ, Ruiter JP, IJLst L, Waterham HR, Houten SM. J Inherit Metab Dis. 2010;33(5):479-494.
- Saudubray JM, Martin D, de Lonlay P, et al. J Inherit Metab Dis. 1999;22(4):488-502.
- Vockley J, Burton B, Berry GT, et al. Mol Genet Metab. 2017;120(4):370-377.
- Vockley J, Burton B, Berry GT, et al. J Inherit Metab Dis. 2019;42(1):169-177.
- Shekhawat PS, Matern D, Strauss AW. Pediatr Res. 2005;57(5 Pt 2):78R-86R.
- Vockley J, Marsden D, McCracken E, et al. Mol Genet Metab. 2015;116(1-2):53-60.
- Spiekerkoetter U. J Inherit Metab Dis. 2010;33(5):527-532.
- Merritt JL 2nd, MacLeod E, Jurecka A, Hainline B. Rev Endocr Metab Disord. 2020;21(4):479-493.
- Merritt JL 2nd, Norris M, Kanungo S. Ann Transl Med. 2018;6(24):473.
CORPORATE OVERVIEW
Ultragenyx was founded to create a steady pipeline of therapies for patients with rare and ultra-rare diseases. It is our shared belief that we will achieve this by creating a people-first ethos that puts patient communities and our employees at the center of our approach and mission.
At Ultragenyx, our goal is to bring novel therapies to patients with serious rare and ultra-rare genetic diseases who lack approved therapies to treat their underlying disease.
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