| Literature DB >> 28190645 |
N C Voermans1, N Preisler2, K L Madsen2, M C H Janssen3, B Kusters4, N Abu Bakar5, F Conte6, V M L Lamberti7, F Nusman8, B G van Engelen7, M van Scherpenzeel6, J Vissing2, D J Lefeber5.
Abstract
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.Entities:
Keywords: Congenital disorder of protein N-glycosylation; Glycogen Storage Disease type XIV; Oral galactose treatment; PGM1 deficiency; Phosphoglucomutase 1
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Year: 2017 PMID： 28190645 DOI： 10.1016/j.nmd.2017.01.014
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296