Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency

Abstract

We report a patient with lipid-storage myopathy due to multiple acyl-CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long-term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.

Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency–related leukodystrophy

“…NaHB treatment appeared to effectively stabilize the patient as he did not experience any further decompensation despite several febrile infections and other situations at risk. In contrast, untreated riboflavin non-responsive MADD can lead to recurrent, even fatal, decompensations difficult to manage (22).…”

“…In contrast, liver and muscle enzymes are commonly elevated in MADD-patients (27). Liver involvement can present as Reye-like syndrome (3) and myopathy as muscular weakness, including respiratory insufficiency (22) and rhabdomyolysis (6).…”

A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil

“…Through this study, it was observed that, in Brazil, there is a substantial request for molecular tests in time to take the necessary preventive measures in cases of mutant genotype results, since 84.3% of the population analyzed consists of newborns. However, performing molecular screening after the first 28 days of life is also valid, since several cases of late manifestations have been reported (Goodman et al, 2002;Olsen et al, 2004).…”

Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

“…They are characterized by hypotonia, hepatomegaly, cardiomyopathy, metabolic acidosis, and severe non‐ketotic hypoglycemia, with or without associated congenital abnormalities 3. There are few published case reports of MADD patients who present later in infancy or early childhood, rarely in teenagers, and exceptionally in young adults 4–9. The mode of presentation includes myopathic symptoms, such as progressive lipid‐storage myopathy, with exercise intolerance and muscle weakness.…”