Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020672 (hypothermia)
 17,327 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS) revealed the excretion of fairly high amounts of 2-methyl-3-oxovaleric acid, a condensation product of two molecules of propionyl-CoA, as well as the known pathological metabolites such as propionic, 3-hydroxypropionic and methylcitric acids. Among the post mortem findings the histological studies of the liver were the most remarkable.
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PMID:Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia. 66 27

The charts of 16 patients with branched chain amino acidemia (MSUD) who had 48 emergency room (ER) visits, of 10 patients with propionic acidemia (PA) who had 57 ER visit, and of 13 patients with methylmalonic acidemia (MMA) who had 154 ER visits, were reviewed retrospectively for the most common clinical presentations, physical and laboratory findings. The most common clinical presentation was acute or chronic vomiting and the most common physical finding was dehydration. When hypoglycemia was found, the mental status of 55% of patients with MSUD and MMA and 20% of patients with PA, was alert. Mixed acid/base disturbance, i.e. alkalosis caused by vomiting mixed with metabolic acidosis caused by the disease, was present in 30% of MSUD, in 33% of PA, and 45% of MMA. There was no relationship between acidosis detected by the blood pH and mental status of the patients. A good correlation between base excess < -5 and serum bicarbonate < 21 mmol/l was found. Blood cultures were positive for bacteria and fungi in 15% of the visits with MSUD, in 23% with PA, and 3% with MMA. Patients with positive blood cultures did not necessarily have a temperature > 39 degrees C nor hypothermia. The results suggest that the mental status of the patients should not detract the ER physician from obtaining blood pH, gases and glucose and in all instances a blood culture should be secured, even if the patient has no fever.
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PMID:Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). 772 86

The management of a handful of non renal clinical conditions includes peritoneal dialysis (PD) as a therapeutic tool. Peritoneal lavage after abdominal surgery is still performed in infectious peritonitis and cases of necrotizing hemorrhagic pancreatitis. Use of PD in active psoriasis resulted in approximately 40 papers reporting mostly isolated cases and showing both therapeutic success and failure. That ambiguous picture persisted during controlled studies, and interest in treating psoriasis with PD faded over the last 20 years. As an emergency tool, PD has been also used in the treatment of metabolic crisis resulting from inborn errors of metabolism such as deficiency of any of the five enzymes of the urea cycle and other inherited disorders of organic and aminoacid metabolism such as maple syrup urine disease, citrullinemia, and propionic acidemia. Recent studies have shown that continuous hemofiltration therapies have more effective clearances than PD does. Similar observations were reported for the use of PD in drug poisoning. Peritoneal dialysis is still a valuable tool as a complementary measure in the treatment of hypothermia. Recently, prospective work in patients affected by end-stage congestive heart failure has shown that maintenance PD significantly lowers morbidity and mortality and substantially improves functional capabilities and quality of life in these otherwise terminally ill patients.
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PMID:Use of peritoneal dialysis and mesothelium in non primary renal conditions. 1988 8