Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency

Table 2

Description of the different phenotypes of DMAD.

Phenotype	Age of onset	Main clinical manifestations	Laboratory abnormalities
I	Neonatal	Congenital malformations such as facial dysmorphism, brain malformation, renal dysplasia, cardiomyopathy, arrhythmia, and hepatomegaly	Non-ketotic hypoglycemia
		Hypotonia
		Fatal outcome in a few days
			Severe metabolic acidosis
II	Neonatal	No congenital malformations	Hypoketotic hypoglycemia
		Cardiomyopathy and arrhythmia	Moderate metabolic acidosis
		Hypotonia
		Fatal outcome in a few weeks without treatment
III	Childhood or adulthood	Myalgia, muscle weakness, fatigability
		Hepatomegaly
		Cardiomyopathy
		Chronic respiratory failure due to restrictive lung disease
		Peripheral neuropathy
Acute decompensation (metabolic crisis)		Worsening of chronic muscle symptoms	Metabolic acidosis
		Vomiting	Hypoketotic hypoglycemia
		Acute respiratory failure	Rhabdomyolysis
		Acute liver failure	Hepatic cytolysis
		Encephalopathy	Hyperammonemia
		Can occur regardless of the phenotype and age of the patient
		Life-threatening prognosis in the absence of appropriate treatment