Biomedical subjects

S Dimauro

Publications and source records attributed to S Dimauro.

21 records · Page 2Linked to original sources

PubMed1977

Corticosteroid-responsive skeletal muscle disease associated with partial carnitine deficiency: studies of liver and metabolic alterations.

A patient with progressive skeletal muscle weakness had lipid-containing vacuoles in type I muscle fibers and partial carnitine deficiency of skeletal muscle. Results of certain liver function tests were abnormal, marked morphologic abnormalities of liver were detected, and a reduced cyclic adenosine 3',5'-monophosphate response to glucagon was present. After the oral administration of prednisone the patient exhibited gradual but striking clinical improvement, skeletal muscle fiber vacuoles could no longer be demonstrated, and the glucagon-provoked cyclic AMP response reverted to normal, but liver abnormalities persisted. At the same time utilization by skeletal muscle of long-chain fatty acids, pyruvate and beta-hydroxybutyrate was depressed. It is possible that the involvement of skeletal muscles was due to an inability of carnitine to attach to or to penetrate the sarcolemmal membrane. Some of the derangement, perhaps related to liver malfunction, was apparently corrected by the oral administration of prednisone although skeletal muscle metabolism remained impaired.

Biopsy↗

PubMed1975

Hereditary carnitine deficiency of muscle.

An eight-year-old boy with slowly progressive muscle weakness was found to have Oil red O positive vacuoles in predominanty type i muscle fibers. Subsequent studies demonstrated markedly reduced skeletal muscle carnitine (0.24 mumoles per gram; normal 1.64 to 3.34). Serum carnitine was normal. Although both parents were clinically normal, muscle carnitine levels were low in both (mother 0.60; father 0.90 mumoles). There was no clinical evidence of cardiac disease but the patient had ventricular hypertrophy by electrocardiography, vectorcardiography, and echocardiography. Treatment with prednisone resulted in clinical improvement but no change in muscle histology. Our studies suggest that the carnitine deficiency of muscle in this case may be due to impaired carnitine entry into muscle and that this form of disease can be inherited as an autosomal recessive disorder.

Aspartate Aminotransferases↗

PubMed1971

Glycogen storage diseases of muscle problems in biochemical genetics.

The glycogen storage diseases of muscle are the only inherited diseases of muscle in which the biochemical abnormalities are known. Despite impressive advances in knowledge during the past decade there are vital gaps in understanding. In none of these diseases is treatment satisfactory. In none of these disorders can theory relate the symptons of the disease (weakness, cramps, myoglobinuria) to the enzymatic defect. In several there are biochemical abnormalties that do not permit explanation in terms of the enzymatic defect. Individual patients and families do not fit into simple schemes of genetic and biochemical analysis. Different proteins have the same enzymatic activities in different organs, apparently under separate genetic control. One enzyme in particular, acid maltase, plays an uncertain role in the normal metabolism of glycogen; lack of this enzyme in the infantile Pompe's disease and myopathies of later onset are of uncertain significance. For these reasons, and others, there is much to be learned about these diseases wer know best. About more common diseases like the muscular dystrophies, we know even less. It is one thing to deliver medical care and something else to have medical care to deliver.

Cardiomyopathies↗