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

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.
 ...
PMID:Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). 772 86

Methyl malonyl coenzyme A mutase deficiency is a rare autosomal inherited inborn error in branched-chain amino acid metabolism characterised by the accumulation of methylmalonic acids. There is relative paucity of literature regarding anaesthetic management of these children presenting for incidental major abdominal surgery. Preoperative management includes goal-directed correction of dehydration, metabolic acidosis and hyperammonemia. Anaesthetic goals include avoidance of factors that can trigger metabolic crisis like hypercapnia, hypothermia, hypoxia, surgical stress, hypovolaemia, hypotension and so on. Herein, we are reporting the anaesthetic management of a 17-month-old child with methylmalonic acidemia (MMA) posted for a major upper abdominal surgery for excision of an adrenal mass, which was incidentally diagnosed during admission for an episode of metabolic crisis. We aim to highlight the specific nuances of pathophysiology of the disease, preoperative optimisation, anaesthetic considerations, role of advanced monitoring and regional anaesthesia and current literature on the management of patients with MMA.
 ...
PMID:Anaesthetic considerations in a child with methylmalonic acidemia and its literature review. 3329 86