Myopathy with Abnormal Lipid Metabolism

08/01/2015 - "An empirical treatment with carnitine may be beneficial for patients before an accurate diagnosis of lipid storage myopathy is made."
01/01/1988 - "Although the primary metabolic defect has yet to be elucidated, the present study indicates that lipid storage myopathy in the absence of carnitine deficiency can be complicated with RS-like episodes."
02/01/2010 - "We report herein a 29-year-old man with muscle carnitine deficiency who developed not only a lipid storage myopathy, but also a severe sensory neuropathy. "
02/01/2010 - "Muscle carnitine deficiency usually results in a lipid storage myopathy, but more rarely, neuropathy occurs in this condition. "
02/01/2010 - "Muscle carnitine deficiency: adult onset lipid storage myopathy with sensory neuropathy."

09/25/1989 - "After 24 h incubation, at any extracellular concentration of P10, the content of P10-labelled triacylglycerols was much higher in multisystemic lipid storage myopathy cells than in controls. "
06/19/1989 - "In contrast, in fibroblasts from multisystemic lipid storage myopathy, the degradation of endogenous triacylglycerols was blocked, whereas that of exogenous triacylglycerols (i.e. "
07/31/1987 - "In contrast, in multisystemic lipid storage myopathy fibroblasts, 40% of the fluorescence was remaining in the cells after 5 days chase; it was contributed by fluorescent triacylglycerols, which appeared as strongly fluorescent cytoplasmic vesicles. "
06/19/1989 - "Independence of triacylglycerol-containing compartments in cultured fibroblasts from Wolman disease and multisystemic lipid storage myopathy."
10/01/2010 - "Among the disorders of lipid metabolism, mutations in the genes encoding two triglyceride lipases acting hand in hand cause severe generalized lipid storage myopathy, one associated with ichthyosis (Chanarin-Dorfman syndrome), the other dominated by juvenile-onset weakness. "

10/01/1982 - "The absence of only CPT-A activity in isolated skeletal muscle mitochondria obtained from a patient with a lipid-storage myopathy suggests two separate activities."
09/01/1980 - "In many cases, lipid storage myopathy is not accompanied by carnitine or CPT deficiency, and the biochemical error remains to be identified."
11/26/1976 - "The syndromes identified to date are as follows: carnitine deficiency (type I lipid storage myopathy), carnitine-palmityltransferase (CPT) deficiency and pyruvate-decarboxylase deficiency. "
07/16/1984 - "400 U/1. Muscle biopsies showed lipid storage myopathy and signs of acute fiber necrosis, muscle carnitine was decreased to below 20% of controls, carnitine palmitoyl transferase (CPT) activity was normal. "
11/26/1976 - "In cases of suspected lipid storage myopathy the following studies are indicated: 1) examination of ketone bodies in serum and urine during fasting, long chain and medium chain triglyceride diets; 2) serum triglyceride and serum carnitine; 3) study on fresh muscle and fibroblasts with labeled substrates, biochemical determination of carnitine and CPT in muscle."

03/01/1992 - "Morphological studies failed to show ragged-red fibers but there was lipid storage myopathy and decreased cytochrome c oxidase activity. "
01/01/1991 - "We report on the first case, a 21-year-old man, with partial deficiency of cytochrome c oxidase, lipid storage myopathy and concomitant lipid storage in the gastric mucosa affecting chief, parietal, and argentaffine cells as well as interstitial macrophages. "
01/01/1983 - "Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. "

11/26/1976 - "In cases of suspected lipid storage myopathy the following studies are indicated: 1) examination of ketone bodies in serum and urine during fasting, long chain and medium chain triglyceride diets; 2) serum triglyceride and serum carnitine; 3) study on fresh muscle and fibroblasts with labeled substrates, biochemical determination of carnitine and CPT in muscle."

01/01/2022 - "Lipid storage myopathy (LSM) is an autosomal recessive inherited lipid and amino metabolic disorder with great clinical heterogeneity. "
01/01/2019 - "Lipophagy decreases muscle lipid accumulation and accordingly improves lipid storage myopathy in muscle tissue. "
01/01/2018 - "Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. "
09/01/2016 - "Analysis of lipid profile in lipid storage myopathy."
01/01/2015 - "Post-mortem histopathology revealed bilaterally symmetric necrotic lesions of the caudate and cerebellar nuclei and multi-organ lipid accumulation, including a lipid storage myopathy. "

11/24/2023 - "We describe three elderly patients with riboflavin-responsive lipid-storage myopathy. "
11/24/2023 - "There are scarce reports of riboflavin-responsive lipid storage myopathy in elderly patients with onset in their sixties. "
11/24/2023 - "Riboflavin-responsive lipid-storage myopathy in elderly patients."
12/01/2020 - "Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin."
12/18/2019 - "Mutations in ETFDH should be screened for in individuals with lipid-storage myopathy to identify patients who are responsive to riboflavin. "

01/01/2015 - "Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog."
07/01/2018 - "Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency."
07/01/1990 - "Influence of chain length of pyrene fatty acids on their uptake and metabolism by Epstein-Barr-virus-transformed lymphoid cell lines from a patient with multisystemic lipid storage myopathy and from control subjects."
12/01/2002 - "Fatty acid oxidation defects encompass a spectrum of clinical disorders, including recurrent hypoglycemic, hypoketotic encephalopathy or Reye-like syndrome in infancy with secondary seizures and potential developmental delay, progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, and progressive cardiomyopathy. "
01/01/2013 - "Recognition of fatty acid oxidation (FAO) disorders is important for the pediatric neurologist as they present with a spectrum of clinical disorders, including progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, progressive cardiomyopathy, recurrent hypoglycemic hypoketotic encephalopathy or Reye-like syndrome, seizures, and mental retardation. "

09/01/2004 - "We suggested analyzing urine organic acid when lipid storage myopathy is suspected."
07/31/1987 - "Finally, these results suggest a practical diagnostic application of 1-pyrenedecanoic acid, which can be used to differentiate multisystemic lipid storage myopathy from normal cultured fibroblasts."
07/31/1987 - "The uptake of 1-pyrenedecanoic acid was not significantly different in multisystemic lipid storage myopathy and control fibroblasts. "
07/31/1987 - "The lipid metabolism in cultured fibroblasts from multisystemic (type 3) lipid storage myopathy and controls has been studied through pulse-chase experiments using 1-pyrenedecanoic acid as precursor. "
01/01/2023 - "Muscle biopsy revealed myopathological patterns of lipid storage myopathy, and urine organic acid analyses showed a slight increase in glycolic acid. "

11/01/1990 - "Defects of short-chain acylcoenzyme A dehydrogenase (SCAD) may cause a severe metabolic illness in children or a lipid storage myopathy in adults. "
06/20/2016 - "Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations."
07/01/2016 - "Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) with electron transfer flavoprotein dehydrogenase (ETFDH) gene mutations is the most common lipid storage myopathy (LSM) in China. "
12/01/2003 - "Riboflavin-responsive, multiple acylcoenzyme A dehydrogenase deficiency (RR-MAD), a lipid storage myopathy, is characterized by, among others, a decrease in fatty acid (FA) beta-oxidation capacity. "

11/01/1994 - "In the adult case of lipid storage myopathy, multiple acyl-CoA dehydrogenase deficiency should be suspected as one of its pathogenesis and riboflavin therapy should be considered."

01/01/2022 - "Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason."