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Pediatría Atención Primaria

Print version ISSN 1139-7632


MOSQUERA GOROSTIDI, Arantxa; DELGADO FUENTES, Elena; AGUILERA ALBESA, Sergio  and  EUGENIA YOLDI PETRI, María. Asymptomatic hyper-CK-emia and thrombocytopenia as initial symptoms of McArdle's disease. Rev Pediatr Aten Primaria [online]. 2016, vol.18, n.70, pp.171-173. ISSN 1139-7632.

McArdle disease is a metabolic and genetic disease due to a deficiency of an enzyme of the glycogen metabolism. We report the case of a patient of 14 years, who showed blood tests alterations preceding the clinical symptomatology.

Keywords : Glycogen; Tiredness; Metabolic.

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