Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We selected 23 patients with neurologic diseases, including 15 boys and 8 girls from 1 month to 10 years of age, who were divided into mitochondrial and nonmitochondrial disease groups. All patients were required to fast and rest for at least 4-10 hours before the test. Glucose was administered orally using a 50% glucose:water solution at a dose of 1.75 mg/kg. Blood samples then were drawn from a retained heparinized venous line at 0, 30, 60, 120, and 180 min and tested for lactate and glucose levels. Of the mitochondrial disease group, 10 of 11 patients had an upward sloping curve of lactate metabolism; the one who had a flat line response was a patient who suffered from a free-fatty-acid metabolic defect presenting with a recurrent Reye-like syndrome. There was a relatively flat line response in the nonmitochondrial disease group except in a patient with alternating hemiplegia whose symptoms responded well to flunarizine therapy. A significant increase in blood lactate content at 60 min after glucose loading occurred in the mitochondrial disease group, in contrast to that of the nonmitochondrial group. Sensitivity and specificity of a 5 mg/dl increase in blood lactate concentration at 60 min was 72.7% vs. 91.7% Moreover, all 4 patients whose blood lactate increased by 13 mg/dl at 60 min were in the mitochondrial disease group.
 ...
PMID:Oral glucose lactate stimulation test in mitochondrial disease. 147 74

Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphate concentration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.
 ...
PMID:Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. 849 40