1/105. Metabolic acidosis and thiamine deficiency.We describe a 19-year-old patient who was receiving home parenteral nutrition in whom lactic acidosis developed. A review of her home parenteral nutrition formula revealed the absence of multivitamins, most significantly thiamine. After thiamine administration, the acidosis resolved, and the patient experienced pronounced clinical improvement. Clinicians must be aware that thiamine is essential for normal glucose metabolism and that thiamine deficiency can lead to lactic acidosis. thiamine deficiency should be included in the differential diagnosis of lactic acidosis. The recent shortage of intravenous multivitamin preparations has led to documented cases of lactic acidosis as a result of thiamine deficiency, and a previous shortage led to several deaths due to lactic acidosis as a consequence of thiamine deficiency. All patients receiving parenteral nutrition must also receive adequate vitamin supplementation.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/105. Hypoketotic hypoglycemic coma in a 21-month-old child.We present the case of a 21-month-old child with hypoketotic hypoglycemic coma. The differential diagnosis initially included metabolic causes versus a toxicologic emergency (unripe ackee fruit poisoning). Using information obtained from the emergency department, the diagnosis was confirmed as the late-onset form of glutaric acidemia type II. This case illustrates the importance of emergency physicians in the diagnosis and management of children with inborn errors of metabolism.- - - - - - - - - - ranking = 0.0098966296310094keywords = late-onset (Clic here for more details about this article) |
3/105. 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 = 0.019793259262019keywords = late-onset (Clic here for more details about this article) |
4/105. delayed diagnosis of fatal medium-chain acyl-coa dehydrogenase deficiency in a child.A 5-year-old white female presented with coma and died unexpectedly. She had a history of recurrent episodes of febrile illnesses associated with lethargy and coma. Postmortem investigation revealed a fatty liver, leading to a suspicion of inborn error of fatty acid oxidation. The diagnosis of medium-chain acyl-coa dehydrogenase (MCAD) deficiency was suggested by abnormal acylcarnitine profile with increased octanoylcarnitine in the blood, and confirmed by fatty acid oxidation studies and mutation analysis in skin fibroblast cultures. This case emphasizes the need to consider fatty acid oxidation disorders in all children who present with hypoglycemia with absent or mild ketones in the urine and high anion gap metabolic acidosis.- - - - - - - - - - ranking = 0.625keywords = deficiency (Clic here for more details about this article) |
5/105. Graft failure of autologous peripheral blood stem cell transplantation due to acute metabolic acidosis associated with total parenteral nutrition in a patient with relapsed breast cancer.A 32-year-old female had been diagnosed as having relapsed breast cancer and liver metastasis. She underwent high-dose chemotherapy followed by autologous peripheral blood stem cell transplantation (PBSCT) with 5.8 x 10(6)/kg CD34 cells. She was supported by total parenteral nutrition (TPN) without vitamins throughout these therapies. Hematopoietic recovery was not observed by day 28 after PBSCT, necessitating a second PBSCT on day 29 using the back-up material of 4.4 x 10(6)/kg CD34 cells. On the next day, she suddenly developed severe metabolic acidosis, heart failure and deep coma. After immediate infusion of thiamine, heart failure and coma rapidly improved. The neutrophil count reached 0.5 x 10(9)/l on day 9 and the platelet count 50 x 10(9)/l on day 15 after the second PBSCT. This is a rare graft failure due to acute metabolic acidosis or thiamine deficiency associated with TPN.- - - - - - - - - - ranking = 0.125keywords = deficiency (Clic here for more details about this article) |
6/105. Severe lymphopenia in tuberculosis. A mere coincidence or a significant association?A variety of infectious agents can cause secondary immunodeficient states. We herein present a one-year-old patient, admitted to the hospital with severe lymphopenia, who was subsequently diagnosed as tuberculosis. After the antituberculosis (anti TB) therapy was started, the clinical condition and the immunologic findings of the patient improved. We have thus concluded that the transient lymphopenia of the patient was due to mycobacterium tuberculosis. We suggest that immunodeficiency should be investigated more often in children with tuberculosis and that further studies will shed light on the pathogenesis of this aspect of the disease.- - - - - - - - - - ranking = 0.125keywords = deficiency (Clic here for more details about this article) |
7/105. Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease.The clinical, biochemical, and neuroradiologic findings and clinical follow-up of seven patients with glutaric aciduria type II are reported. Three phenotypes of the disease are encountered: neonatal-onset form with congenital anomalies (two patients) or without congenital anomalies (three patients) and late-onset form (two patients). The neonatal-onset form presents as an overwhelming illness, with severe hypoglycemia and metabolic acidosis leading to rapid death. Frequently it is associated with perinatal energy deprivation, a neonate with low birth weight and prematurity. The late-onset form presents with intermittent episodes of vomiting, hypoglycemia, and acidosis especially after meals rich in fat and/or proteins. All parents are consanguineous and have a first- or second-degree relationship. Initially, in the two phenotypes with neonatal onset and during crisis in the late-onset phenotype, routine laboratory evaluation showed severe metabolic acidosis, with an increased anion gap, hypoglycemia without ketonuria, and disturbed liver function tests. In the majority of patients with neonatal-onset forms, the kidneys, liver, and at times the spleen are enlarged with an increased echogenic pattern; however, no hepatic or renal cysts are detected. cardiomegaly is observed in most patients. The diagnosis can be easily and rapidly reached through tandem mass spectrometry study of the blood and can further be confirmed by gas chromatography/mass spectrometry analysis of the urine organic acids. In this report, the magnetic resonance imaging/computed tomography brain studies showed brain atrophy, white matter disease, and in one patient, fluid-filled cavities in the periventricular area and putamina. fluorine-18-labeled 2-fluoro-2-deoxyglucose positron emission tomographic (FDG PET) brain studies in two patients with late-onset disease showed slightly decreased activity in the cerebral cortex in one and in the caudate nuclei in the other. brain FDG PET scan and magnetic resonance spectroscopy were normal in one patient with neonatal-onset disease. All patients were treated with a diet low in fat and protein, oral riboflavin, and carnitine. The results were promising for the late-onset disease. Intravenous carnitine gave rewarding results in one patient with neonatal-onset disease.- - - - - - - - - - ranking = 0.089069666679085keywords = late-onset (Clic here for more details about this article) |
8/105. 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 = 698.8584051303keywords = carboxylase deficiency, carboxylase, deficiency (Clic here for more details about this article) |
9/105. Mitochondrial dna depletion, near-fatal metabolic acidosis, and liver failure in an hiv-infected child treated with combination antiretroviral therapy.A child with controlled human immunodeficiency virus infection presented with neurologic deterioration, lactic acidosis, and organic aciduria. Muscle biopsy revealed abnormal mitochondrial (mt) morphology, reduced mt enzyme activities, and mtDNA depletion. After adjustment of antiretroviral therapy to a regimen free of nucleoside analogs, marked improvement was seen in clinical status and mt abnormalities.- - - - - - - - - - ranking = 0.125keywords = deficiency (Clic here for more details about this article) |
10/105. Severe metabolic acidosis and heart failure due to thiamine deficiency.We report the case of a male patient with severe metabolic acidosis and heart failure caused by thiamine deficiency. He was admitted in August 1998 to the Tokai University Oiso Hospital because of severe dyspnea. The patient was diagnosed with heart failure and metabolic acidosis of unknown causes based on arterial blood gas analysis, chest x ray, and ultrasonic echocardiographic examinations. Our previous experience in treating a patient with thiamine deficiency caused by total parenteral nutrition without thiamine supplementation suggested that this patient was deficient in thiamine. The serum thiamine level was low and the lactate level was high. After intravenous administration of thiamine, the acidosis and heart failure disappeared. Dietary analysis showed that thiamine intake was low (0.32 mg/1000 kcal/d). thiamine deficiency should be included in the differential diagnosis when encountering cases of heart failure with severe metabolic acidosis, even in developed countries.- - - - - - - - - - ranking = 0.875keywords = deficiency (Clic here for more details about this article) |
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