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A payer working from claims cannot count the population the guideline defines, because the syndrome has no code to carry it

The most frequent clinical presentation is the milder myopathic Type III form, which manifests with fluctuating proximal and axial myopathy with exercise intolerance and occasionally respiratory insufficiency [138] or rhabdomyolysis, although often with hepatomegaly, encephalopathy, and episodic lethargy, as well as vomiting and hypoglycemia often triggered by metabolic stress, episodes of which have been lethal in 5% of patients [140]

Preclinical studies in rodents have demonstrated reductions in fat mass, improved insulin sensitivity, and increased metabolic rate without significant changes to food intake (Neelakantan et al., 2019)

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