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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Fat oxidation is impaired during exercise in lipin-1 deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Declining malformation rates with changed antiepileptic drug prescribing: An observational study

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  3. Neuromuscular adverse events associated with anti-PD-1 monoclonal antibodies: Systematic review

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  4. Clinical spectrum of STX1B-related epileptic disorders

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  5. Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study

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  1. Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Fat oxidation is impaired during exercise in lipin-1 deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

OBJECTIVE: To study fat and carbohydrate metabolism during exercise in patients with glycogenin-1 (GYG1) deficiency, and to study whether IV glucose supplementation can alleviate exercise intolerance in these patients.

METHODS: This is a case-control study with 4 patients with GYG1 deficiency and 4 healthy controls. Patients performed 1 hour of cycling at 50% of their maximal workload capacity, while controls cycled at the same absolute workloads as patients. Heart rate was measured continuously, and production and utilization of fat and glucose was assessed by stable isotope technique. The following day, patients repeated the exercise, this time receiving an IV 10% glucose supplement.

RESULTS: Glucose utilization during exercise was similar in patients and controls, while palmitate utilization was greater in patients compared to controls. However, exercise-induced increases in lactate were attenuated to about half normal in patients. This was also the case during a handgrip exercise test. Glucose infusion improved exercise tolerance in patients, and lowered heart rate by on average 11 beats per minute during exercise.

CONCLUSIONS: The findings suggest that patients with GYG1 deficiency not only have abnormal formation of glycogen, but also have impaired muscle glycogenolysis, as suggested by impaired lactate production during exercise and improved exercise tolerance with glucose infusion.

OriginalsprogEngelsk
TidsskriftNeurology
Vol/bind89
Udgave nummer24
Sider (fra-til)2491-2494
Antal sider4
ISSN0028-3878
DOI
StatusUdgivet - 12 dec. 2017

ID: 52192384