Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1. Blood alanine was measured in six patients undergoing total hip replacement and in four normal subjects starved for 4 days. Hypoalaninaemia occurred in both groups and persisted in the surgical patients despite an adequate diet. The blood alanine was also low in four insulin-dependent diabetic patients and in four patients with muscular dystrophy; it was normal in four patients with cirrhotic liver disease. 2. The removal of an intravenous L-alanine load (12 g; 133 mmol) was significantly increased after surgery and in the diabetic patients, unaltered by starvation, and decreased in the cirrhotic patients. 3. Increases in blood glucose were observed when alanine infusion was performed 6 h after surgery and after 3 days' starvation. Increases in blood lactate and pyruvate always occurred after alanine infusion but were most marked 6 h after surgery. 4. These results show that the metabolic response to an alanine load and the ability of the body to remove it alter with change in physiological state, and that the hypoalaninaemia after surgery and in diabetes is related to an increased removal of intravenous alanine, whereas that during starvation is not.
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PMID:Relationship between the basal blood alanine concentration and the removal of an alanine load in various clinical states in man. 737 55

A child with Wilm's tumor and a child with immune thrombocytopenic purpura (ITP) were each noted to have persistent elevations of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dehydrogenase (LDH). Both children underwent thorough evaluation for liver disease and, as a result, experienced delays in treatment of the Wilm's tumor and ITP. Eventually both children were found to have extremely elevated serum creatine kinase (CK). Muscle biopsy confirmed diagnoses of Duchenne's muscular dystrophy in one child, and Becker's muscular dystrophy in the second. Hematologists/oncologists should consider obtaining a serum CK to rule out muscle disease in patients with unexplained elevations of AST, ALT, and LDH.
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PMID:"Liver function tests" are not always tests of liver function. 1155 57

Nonalcoholic fatty liver disease (NAFLD) is a common chronic liver disease that is strongly associated with insulin resistance. Myotonic dystrophy (DM1) is the most common form of adult-onset muscular dystrophy, and there is a high frequency of insulin resistance due to insulin receptor mRNA splicing defects in muscle tissue. The frequency and predictors of NAFLD in this population have not been described. Thirty-six patients with DM1 were prospectively assessed for the presence of NAFLD and insulin resistance. NAFLD was defined by abnormal liver chemistry tests with ultrasound or pathologic evidence of steatosis in the absence of other liver disease. Abnormal liver chemistry tests were found in 44% of DM1 patients (mean ALT 73 +/- 21 U/L, AST 53 +/- 15 U/L), and 87% were attributable to NAFLD. Clinical predictors of NAFLD included increased insulin resistance by the homeostasis model assessment (HOMA) method (9.5 vs. 4.0 U, P = 0.03), elevated fasting insulin (40.4 vs. 16.1 microIU/ml, P = 0.03), abdominal obesity (98.6 vs. 90.8 cm, P = 0.03), elevated triglycerides (195.7 vs. 136.8 mg/dl, P = 0.02), and elevated total cholesterol (213.6 vs. 180.6 mg/dl, P = 0.02). NAFLD is very common and should be considered in the management of DM1. It is strongly associated with markers of insulin resistance and features of the metabolic syndrome. These findings support the role of peripheral insulin resistance in the pathogenesis of NAFLD.
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PMID:Frequency and predictors of nonalcoholic fatty liver disease in myotonic dystrophy. 1981 85

We describe 8 children - with incidentally detected isolated elevation of liver enzymes aspartate aminotansferase and alanine aminotransferase - who were extensively evaluated for hepatic causes before finally being diagnosed to have muscular dystrophy. Serum creatinine phosphokinase levels, if performed early during the work-up, may help in diagnosis of muscle disease and avoid unnecessary investigations for liver disease.
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PMID:Incidentally Detected Elevated Liver Enzymes: From Liver to Muscle. 2847 96