PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise.
Originalsprog | Engelsk |
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Tidsskrift | Neuromuscular Disorders |
Vol/bind | 27 |
Udgave nummer | 4 |
Sider (fra-til) | 370-376 |
ISSN | 0960-8966 |
DOI | |
Status | Udgivet - 2017 |
ID: 194975429