Profound metabolic acidosis from pyroglutamic acidemia: an underappreciated cause of high anion gap metabolic acidosis
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چکیده
منابع مشابه
Profound metabolic acidosis from pyroglutamic acidemia: an underappreciated cause of high anion gap metabolic acidosis.
The workup of the emergency patient with a raised anion gap metabolic acidosis includes assessment of the components of “MUDPILES” (methanol; uremia; diabetic ketoacidosis; paraldehyde; isoniazid, iron or inborn errors of metabolism; lactic acid; ethylene glycol; salicylates). This approach is usually sufficient for the majority of cases in the emergency department; however, there are many othe...
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Metabolic acidosis is defined as a low arterial blood pH in conjunction with a reduced serum HCO3concentration. Respiratory compensation results in a decrease in PaCO2. A low serum HCO3concentration alone is not diagnostic of metabolic acidosis because it also results from the renal compensation to chronic respiratory alkalosis. Measurement of the arterial pH differentiates between these two po...
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Methylmalonic aciduria is an inborn error in the organic acids metabolism. Deficiency of methylmalonyl CoA mutase or its coenzyme, adenosylcobalamine, leads to accumulation of methymalonic acid in body fluids. The disease manifests with recurrent episodes of dehydration, metabolic acidosis, coma and death. We report a case of methylmalonic aciduria diagnosed in a female infant who presented wit...
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We present a case of high anion gap metabolic acidosis with an unusual aetiology in a 75-year-old lady with hypoglycaemia, encephalopathy and relatively preserved renal function. Full toxicology and biochemical analysis suggested that she had an inborn error of metabolism, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency that can predispose to severe acidosis in situations where...
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High anion gap metabolic acidosis in adults is a severe metabolic disorder for which the primary organic acid usually is apparent by clinical history and standard laboratory testing. We report a case of recurrent high anion gap metabolic acidosis in a 48-year-old man who initially presented with anorexia and malaise. Physical examination was unrevealing. Arterial pH was 6.98, P co 2 was 5 mm Hg...
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ژورنال
عنوان ژورنال: CJEM
سال: 2010
ISSN: 1481-8035,1481-8043
DOI: 10.1017/s148180350001263x