Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032290 (aspiration pneumonia)
 2,291 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lipopigment storage disorders are common lysosomal diseases of unknown etiology. Four classic types have been delineated on a clinical basis, focused on the age of onset, visual and retinal impairment, epilepsy and progressive loss of mental and motor abilities. Lipopigments with ultrastructural characteristics distinct from lipofuscin accumulate mostly in the nerve cells but in many other cell types as well. Excess dolichol can be demonstrated in tissues and urine, but no primary accumulating substrate has been identified. Many cases with atypical features or course cannot be currently classified. Medical treatment includes, in all types, prevention of aspiration pneumonia with fundoplication and gastrostomy and avoidance of carbamazepine. In Spielmeyer-Vogt, Vitamin E and appropriate mental and physical stimulation improve the patient's quality of life.
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PMID:Diagnosis and treatment of typical and atypical forms of lipopigment storage disorders. 314 28