Case Report
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 |
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