Lipid Myopathies

Abstract

Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance and muscular weakness. Muscular atrophy is rarely present. Acute muscular exacerbations, resulting in rhabdomyolysis crisis are triggered by several factors. Several classifications of lipid myopathies have been proposed, based on clinical involvement, biochemical defect or histopathological findings. Herein, we propose a full revision of all the main clinical entities of lipid metabolism disorders with a muscle involvement, also including some those disorders of fatty acid oxidation (FAO) with muscular symptoms not included among previous lipid myopathies classifications.

Investigation of adult‐onset multiple acyl‐CoA dehydrogenase deficiency associated with peripheral neuropathy

“…In late-onset cases, MADD patients usually show progressive skeletal muscle weakness. 5 Some MADD patients show extramuscular symptoms such as cardiomyopathy, 4 encephalopathy, 6 and gastrointestinal symptoms; 7 however, peripheral neuropathy has been reported only in six papers over the past four decades. In the present study, we report four cases of MADD with peripheral neuropathy in our neuromuscular center.…”

“…In infantile cases, clinical manifestations of MADD are often similar to those of other types of LSMs, including hypotonia, hypoketotic hypoglycemic encephalopathy, hepatomegaly, and cardiomyopathy. In late‐onset cases, MADD patients usually show progressive skeletal muscle weakness 5 …”

ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology

“…Multiple acyl-coenzyme A (CoA) dehydrogenase deficiency (MADD, MIM#231680), also known as glutaric aciduria type II, is an inherited, autosomal recessive disorder [1]. MADD presents with a broad spectrum of symptoms, including hypotonia, hypoglycemia, recurrent rhabdomyolysis, cardiomyopathy, polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex, encephalopathy, leukodystrophy, and lipid storage myopathy [2]. The clinical manifestations in MADD are highly variable and related to the onset period.…”

Fasting-Induced Rhabdomyolysis in An Adolescent Girl

“…The last two associations occur most commonly with carnitine palmitoyl transferase II deficiency and the other disorders of lipid metabolism [7,1]. Recognized heritable causes of rhabdomyolysis are defects in the glycogen metabolism and glycolysis, in the respiratory chain or in fatty acid oxidation [5,8]. Within the group of disorders of fatty acid metabolism, carnitine palmitoyl-transferase II deficiency is the most frequently reported condition, but other defects, like VLCAD deficiency, should also been considered [14,6].…”

“…Also Lipin-1 deficiency causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. [8] Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a lipid metabolism disorder that was first described in 1993. It is an autosomal recessive genetic disorder in which the first step in the mitochondrial β-oxidation spiral of fatty acids for 14-20 carbons is defective [4].…”