Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0154251 (lipid disorder)
 795 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. Investigation showed acanthocytosis and hypoprebetalipoproteinemia, and electroretinograms were typical of tapetoretinal degeneration. T2-weighted MRI showed decreased signal intensity in the pallidal nuclei with central hyperintensity, constituting the "eye-of-the-tiger" sign. The patient's sister and mother have a similar lipid disorder but no retinal or neurologic disease. We also report two patients with clinical and radiologic features similar to those of the patient with HARP syndrome but who had normal lipid studies. These various combinations of components of HARP syndrome may be caused by several distinct genetic diseases or may represent variable manifestations of a contiguous gene defect.
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PMID:Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). 789 2

The metabolic myopathies are a heterogeneous group of diseases, including glycogenoses, disorders of lipid metabolism, and mitochondrial myopathies, that result primarily from inborn errors of metabolism. Most of these metabolic defects cause medical conditions that manifest early in life. Nevertheless, clinical presentations during the teenage years and adulthood are increasingly being recognized. Many of the clinical manifestations of these diseases are difficult to differentiate from those observed in the idiopathic inflammatory myopathies, especially polymyositis. A directed evaluation using the clinical, laboratory, and genetic approaches summarized in this article, however, should allow for the differentiation of most metabolic myopathies from polymyositis and other forms of idiopathic inflammatory myopathy. The diagnosis of a metabolic myopathy should be considered in patients who appear to have polymyositis but lack the characteristic changes of inflammation found on EMG, MRI, or muscle histology, or in such patients who are refractory to immunosuppressive therapy. The forearm ischemic exercise test is especially useful to screen for some inborn errors of glycogen metabolism or glycolysis and for myoadenylate deaminase deficiency. Thorough analysis of muscle tissue, including histology, histochemistry, biochemistry, and occasionally electron microscopy, is often necessary to make the diagnosis of a metabolic myopathy. Advances in molecular biology methods and knowledge of the precise genetic defects associated with these metabolic defects are dramatically increasing our capacity to diagnose patients with a widening range of myopathies. It is expected that, with further understanding of the mechanisms of the metabolic and idiopathic inflammatory myopathies, the differentiation of these disorders into their pathogenetic components, and the capacity to diagnose them will continue to improve. These are essential factors in improving genetic counseling and eventually the therapy of these serious, and currently incurable, disorders.
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PMID:Differentiating idiopathic inflammatory myopathies from metabolic myopathies. 1250 71