HADHB and cardiomyopathy: To date, 33 mutation sites in HADHB gene have been reported [17] and these mutation-associated phenotypes exhibit clinical heterogeneity, which can be mainly subdivided into three distinctive groups: severe neonatal presentation with cardiomyopathy, hepatic form with recurrent hypoketotic hypoglycemia, and later-onset axonal sensory neuropathy with episodic myoglobinuria [11].