11/105. 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 = 1keywords = deficiency (Clic here for more details about this article) |
12/105. 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 = 5keywords = deficiency (Clic here for more details about this article) |
13/105. 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 = deficiency (Clic here for more details about this article) |
14/105. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.Holocarboxylase synthetase (HLCS) deficiency (HLCSD) is a rare autosomal recessive disorder of biotin metabolism. HLCS catalyzes the biotinylation of the four human biotin-dependent carboxylases. Using the newly available human genomic sequence, we report the map of HLCS genomic structure and the predicted exon/intron boundaries. Moreover, the molecular studies of four patients (two Italians, one Iranian, and one Australian) affected by HLCS deficiency are here reported. The clinical findings, the age of onset, and response to biotin treatment differed between our patients. The diagnosis was made by organic acid analysis and confirmed by enzymatic analysis in three patients. Six mutations in the HLCS gene were identified, including two novel (N511K and G582R) and four known missense mutations (L216R, R508W, V550M, and G581S). Five of the mutations are localized within the HLCS biotin-binding domain, whereas the L216R amino acid change is located in the N-terminal region outside of the putative biotin-binding domain. This mutation, previously reported in a heterozygous state, was detected for the first time in a patient with homozygous status. The patient's severe clinical phenotype and partial responsiveness to biotin support a genotype-phenotype correlation through the involvement of residues of the N-terminal region in a substrate specificity recognition or regulation of the HLCS enzyme.- - - - - - - - - - ranking = 1500.3354418307keywords = carboxylase, deficiency (Clic here for more details about this article) |
15/105. Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of renal failure, fanconi syndrome, and nephrogenic diabetes insipidus.We report 3 cases of renal toxicity associated with use of the antiviral agent tenofovir. Renal failure, proximal tubular dysfunction, and nephrogenic diabetes insipidus were observed, and, in 2 cases, renal biopsy revealed severe tubular necrosis with characteristic nuclear changes. patients receiving tenofovir must be monitored closely for early signs of tubulopathy (glycosuria, acidosis, mild increase in the plasma creatinine level, and proteinuria).- - - - - - - - - - ranking = 4keywords = deficiency (Clic here for more details about this article) |
16/105. Fatal metabolic acidosis caused by thiamine deficiency.Acute thiamine deficiency, an uncommon cause of hemodynamic instability in Western countries, may be manifested by acute heart failure and neurological deficits. Severe metabolic acidosis is one of its least recognized features. We present a report of foreign workers who complained of weakness and lower limb edema and were found to have acute thiamine deficiency. One died of refractory metabolic acidosis and shock, and the diagnosis was reached post mortem. thiamine deficiency should be considered in every case of severe lactic acidosis without an obvious cause, especially in high-risk populations (malnourished, alcoholics, Far-East workers, etc). Whenever it is suspected, empiric treatment with thiamine should be initiated immediately. physicians who care for populations at risk should be familiar with the clinical spectrum of nutritional deficits, and monitor the nutritional habits of these patients carefully. The treatment is inexpensive and devoid of adverse effects. Moreover, delaying thiamine administration in patients with deficiency may cause severe life-threatening metabolic acidosis and affect recovery. The prophylactic use of thiamine in a high-risk population, even before blood levels are received, may be cost effective.- - - - - - - - - - ranking = 8keywords = deficiency (Clic here for more details about this article) |
17/105. growth hormone deficiency associated with methylmalonic acidemia.Poor growth is a common finding in patients with organic acidemias. growth hormone (GH) therapy has been considered in the management of these disorders as a mode to enhance anabolism and lower the high levels of methylmalonic acid. We report two patients with methylmalonic acidemia (mut(o)) and GH deficiency. Both patients had persistently elevated serum concentrations of methylmalonic acid, which failed to respond to conventional therapy. In anticipation of using GH therapy to reduce high methylmalonic acid concentrations, the first patient underwent GH testing utilizing a provocative glucagon stimulation test and was found to be deficient. He was subsequently treated with GH and demonstrated improved growth, but his methylmalonic acid concentrations remain elevated. The second patient was also found to be GH deficient. These findings suggest that GH deficiency may be an etiologic factor in the poor growth seen in patients with organic acidemia.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
18/105. fructose-1,6-diphosphatase deficiency: a rare cause of prolonged prothrombin time.A 20-year-old woman presented with severe life-threatening metabolic acidosis and hypoglycemia. In addition, her blood tests revealed elevated hepatic enzymes and a prolonged prothrombin time, with a reduction in factor vii activity. After treatment with a glucose and bicarbonate-containing intravenous infusion, there was a dramatic clinical improvement and normalization of the prothrombin time within 2 days. The patient was found to have fructose-1,6-diphosphatase deficiency, a rare metabolic disorder which has not been described previously as causing coagulation defects.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
19/105. A newborn infant with generalized glutathione synthetase deficiency.Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. The severe form of the disease, generalized GSSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. We report a female infant who had a severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia. High level of 5-oxoproline was detected in her urine and a diagnosis of generalized GSSD was made. She died of severe metabolic acidosis and sepsis at the age of six weeks.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
20/105. role of hyperkalemia in the metabolic acidosis of isolated hypoaldosteronism.We studied the relative importance of hyperkalemia and mineralocorticoid deficiency in the metabolic acidosis of a patient with proved isolated hyporeninemic hypoaldosteronism and moderate kidney failure. The hyperkalemia and acidosis were severe in relation to the slight azotemia. Despite the systemic acidosis and urinary pH of 4.9, urinary ammonium excretion was distinctly blunted. Correction of the hyperkalemia by potassium-sodium exchange resin alone resolved the acidosis and restored the previously diminished urinary ammonium excretion to normal. Administration of mineralocorticoids only partially corrected the hyperkalemia and the acidosis. hyperkalemia by itself, rather than hypoaldosteronism per se, caused the acidosis in this patient. hyperkalemia apparently suppresses urinary ammonium excretion and thus interferes with urinary acidification.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
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