Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase complex in his platelets and of pyruvate decarboxylase in his muscle. When placed on a low carbohydrate-high fat diet for 6 months, his blood levels of lactate and pyruvate became nearly normal, but his cerebrospinal fluid levels of lactate and pyruvate remained high. Despite this dietary therapy, neurologic deterioration progressed slowly. He died of pneumonia after artificial respiration for 3 wk. At autopsy, extensive symmetric lesions were found in the brain including proliferation of capillaries and gliosis in the brain stem and diffuse demyelination in the white matter. These lesions were consistent with those observed in Leigh's disease. The activities of the pyruvate dehydrogenase complex and pyruvate decarboxylase in various tissues obtained at autopsy were less than 10% of control values; however, the activities of pyruvate carboxylase and alpha-ketoglutarate decarboxylase were within the normal limits. This patient with Leigh's disease had an isolated deficiency of pyruvate decarboxylase in various tissues.
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PMID:Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency. 709 58