1/54. Successful pregnancy in severe methylmalonic acidaemia.Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis. With improved and intensive treatment, these patients are living into adulthood, but many experience late-onset disease complications such as chronic renal failure, chronic pancreatitis and osteopenia. We report the successful delivery of a healthy baby to a 20-year-old woman with vitamin B12-unresponsive methylmalonic acidaemia who has these late-onset manifestations of the disease and had plasma methylmalonic acid concentrations of 1900 mumol/L during the first trimester of pregnancy.- - - - - - - - - - ranking = 1keywords = ketoacidosis (Clic here for more details about this article) |
2/54. Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.- - - - - - - - - - ranking = 3.6406659357765keywords = ketosis (Clic here for more details about this article) |
3/54. diabetic ketoacidosis associated with recurrent pulmonary edema and rhabdomyolysis in a patient with Turner's syndrome.Turner's syndrome is a condition involving total or partial absence of one x chromosome and has been associated with a number of diseases including non insulin dependent diabetes mellitus, abnormalities of glucose metabolism and hypothreosis. There have been many case reports in which Turner's syndrome is associated with type 2 diabetes, but the association with type 1 diabetes and/or life threatening complications is very rare. We present an unusual case of a patient with Turner's syndrome who has type 1 diabetes and is complicated with ketoacidosis, severe acute and recurrent pulmonary edema and rhabdomyolysis.- - - - - - - - - - ranking = 5keywords = ketoacidosis (Clic here for more details about this article) |
4/54. Rapid diagnosis of alcoholic ketoacidosis by proton NMR.In alcoholic patients, metabolic acidosis can be related to lactate acidosis associated with sepsis or thiamine deficiency, ketoacidosis, methanol or ethylene glycol poisoning. High resolution proton nuclear magnetic resonance (NMR) can be used to detect abnormal organic acid metabolites in urine or serum from patients with various metabolic disorders. In the present case, a 26-year-old patient was admitted for a coma associated with severe metabolic acidosis. Alcoholic ketoacidosis (AKA) was identified by urine proton NMR. Her metabolic disorders rapidly improved. Persisting associated neurological alteration was related to extrapontine myelinolysis as shown by imaging cerebral NMR.- - - - - - - - - - ranking = 6keywords = ketoacidosis (Clic here for more details about this article) |
5/54. Multiple acyl-coa dehydrogenase deficiency: a rare cause of acidosis with an increased anion gap.Metabolic acidosis is encountered frequently in intensive care and common causes include lactic acidosis, ketoacidosis, or renal failure. We describe a patient presenting to intensive care with a rare cause of metabolic acidosis associated with an increased anion gap: multiple acyl-coa dehydrogenase deficiency. The pathophysiology of this condition is discussed along with potential treatment options.- - - - - - - - - - ranking = 1keywords = ketoacidosis (Clic here for more details about this article) |
6/54. Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.Two patients with methylmalonic acidaemia due to methylmalonyl-coa mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid and N-tiglyglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.- - - - - - - - - - ranking = 1keywords = ketoacidosis (Clic here for more details about this article) |
7/54. Alcoholic ketoacidosis in a pregnant woman.A case of alcoholic ketoacidosis in a 23-year-old chronic alcoholic, gravada V, para IV, is reported. Symptoms were constant, severe, nonradiating pain with crampy exacerbations, anorexia, nausea and vomiting. The patient had a tender and irritable full-term uterus. She was treated inhospital with vigorous fluid therapy and 5% dextrose in normal saline, sodium bicarbonate, glucose and insulin and showed improvement overnight. Alcoholic ketoacidosis has not been reported in pregnant women. Metabolic derangements combine to produce ketoacidosis more readily in the pregnant alcoholic. Differentiation of alcoholic ketoacidosis and diabetic ketoacidosis is important since treatment varies. For alcoholic ketoacidosis, treatment is vigorous rehydration with dextrose-saline while diabetic ketoacidosis usually requires multiple therapeutic modalities.- - - - - - - - - - ranking = 11keywords = ketoacidosis (Clic here for more details about this article) |
8/54. Alcohol induced ketoacidosis, severe hypoglycemia and irreversible encephalopathy.BACKGROUND: Severe hypoglycemia leading to permanent brain damage is rare in non-diabetic population. We present one such case where chronic alcoholism combined with prolonged fasting lead to such a state and patient ended in a persistent vegetative state. CASE REPORT: A 50 year old Asian woman with past history of chronic alcoholism and hepatitis c was found unresponsive in her house after drinking alcohol consecutively for 2 days. Finger-stick glucose done by paramedics was <20 mg/dl. She was given 50 ml of 50% dextrose without any neurological response. On arrival in the emergency department patient was found to be comatose with only withdrawal response to deep painful stimuli and a negative babinski's sign. Computed tomogram of the head revealed mild cerebral atrophy. After an extensive work up a diagnosis of alcoholic ketoacidosis with hypoglycemia related encephalopathy was made. CONCLUSIONS: Alcohol induced ketoacidosis is usually associated with normal blood glucose. The probable etiology of low blood sugar in our patient was alcohol-induced inhibition of gluconeogenesis along with starvation. The prolonged hypoglycemia caused cortical damage simulating ischemic brain damage. Ten months in to follow-up patient is still in persistent vegetative state with no noticeable neurological recovery.- - - - - - - - - - ranking = 6keywords = ketoacidosis (Clic here for more details about this article) |
9/54. Major ketogenesis and the absence of an osmolar gap in an atypical case of alcoholic ketoacidosis.A new case of alcoholic ketoacidosis (AKA) is presented because of unusual clinical and biochemical features. Although it shares some similarities with typical cases of AKA, it appears as unique because of predominantly neurological, rather than abdominal symptoms, major ketogenesis with normal ketone body ratio, the presence of large amounts of propanediol and the absence of an osmolar gap.- - - - - - - - - - ranking = 5keywords = ketoacidosis (Clic here for more details about this article) |
10/54. Non-specific hyperamylasemia in shosin beri-beri.Several reports demonstrate non-specific hyperamylasemia in cardiac surgery or diabetic ketoacidosis. We report here for the first time non-specific hyperamylasemia in a cardiovascular beri-beri case who showed shock with severe metabolic acidosis. Her echocardiography revealed hyperkinetic wall motion of the small left ventricle. Despite intravascular volume expansion in parallel with dopamine administration, her blood pressure did not recover. Abdominal computed tomography (CT) did not reveal pancreatic swelling or any other signs of acute pancreatitis. Her history suggested a possibility of cardiovascular beri-beri due to chronic alcoholism. Thiamine administration dramatically reversed her haemodynamic derangements, metabolic acidosis and even relieved her abdominal pain. Isozyme examinations for hyperamylasemia showed that most of the serum amylase consisted of salivary type. This case report expands our information on non-specific hyperamylasemia encountered in the emergency setting.- - - - - - - - - - ranking = 1keywords = ketoacidosis (Clic here for more details about this article) |
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