1/35. zidovudine-associated type B lactic acidosis and hepatic steatosis in an hiv-infected patient.A 34-year-old obese woman with human immunodeficiency virus (hiv) infection diagnosed a year earlier was seen because of nausea, vomiting, and intermittent diarrhea for 3 weeks. Her current medications included zidovudine. physical examination revealed tachypnea and tender hepatomegaly. Computed tomography of the abdomen showed hepatomegaly with fatty infiltration. Liver enzymes were within normal range except for elevated lactate dehydrogenase (LDH). The serum bicarbonate value was low, with a lactate level three times normal. The tachypnea and dyspnea worsened as lactate concentrations rapidly increased to 15 times normal. Although her Po2 and cardiac index were initially adequate, the patient had acute respiratory failure. She died with multiorgan dysfunction, including hepatic failure, severe lactic acidemia, disseminated intravascular coagulation, and renal failure. autopsy revealed hepatomegaly and massive steatosis. physicians should consider lactic acidosis in patients taking zidovudine and having unexplained tachypnea, dyspnea, and low serum bicarbonate concentrations.- - - - - - - - - - ranking = 1keywords = dehydrogenase, deficiency (Clic here for more details about this article) |
2/35. lymph loss in the bowel and severe nutritional disturbances in Crohn's disease.A severe nutritional deficiency status is described in a 22-year-old patient with Crohn's disease. The clinical picture on admission was dominated by an episode of gastrointestinal bleeding secondary to clotting disturbances (vitamin k deficiency) and severe cachexia due to a protein energy malnutrition. The mechanisms of severe nutritional disturbances in Crohn's disease are multifactorial. In this patient, lymphatic leakage into the intestinal lumen was a major contributing factor in the pathogenesis of protein-losing enteropathy, fat malabsorption, and lymphocytopenia. The authors were able to demonstrate this intestinal lymph loss by nuclear imaging.- - - - - - - - - - ranking = 0.60554111154795keywords = deficiency (Clic here for more details about this article) |
3/35. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.patients with long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency present with a Reye-like syndrome, cardiomyopathy, or sudden unexpected death. We describe an unusual presentation in a patient with unsuspected LCHAD deficiency. The proband presented at 2 months of age with an acute infantile hypocalcaemia and vitamin d deficiency associated with occult, unexplained cholestatic liver disease. Sudden, unexpected death occurred at 8 months. Molecular analysis revealed homozygosity for the prevalent LCHAD (1528G > C, E474Q) mutation. The mother had pre-eclampsia during the third trimester of her pregnancy. In a subsequent pregnancy, she developed severe acute fatty liver of pregnancy (AFLP) and intrauterine fetal death at 33 weeks of gestation. In conclusion, infantile hypocalcaemia is an unusual phenotype associated with LCHAD deficiency. The maternal pregnancy history documents that fetal LCHAD deficiency is associated with a spectrum of maternal illnesses ranging from pre-eclampsia to life-threatening AFLP.- - - - - - - - - - ranking = 26.170998990163keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
4/35. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.The spectrum of clinical presentation of fatty acid oxidation defects (FAOD) continues to expand. One FAOD, L-3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency has been associated with liver disease in pregnancies involving a heterozygous mother carrying an affected fetus. Hepatic carnitine palmitoyltransferase (CPT I) deficiency typically presents as a Reyelike syndrome in children between 8 and 18 mo. of age. We have investigated a family in which the mother developed liver disease consistent with acute fatty liver of pregnancy (AFLP) and hyperemesis gravidarum in her two successive pregnancies. Neither child nor their mother was found to carry the common LCHAD G1528C mutation. Both children were subsequently shown to have absent activity of CPT I. This is the first report of CPT I deficiency presenting as maternal illness in pregnancy.- - - - - - - - - - ranking = 2.8166233346438keywords = dehydrogenase, deficiency (Clic here for more details about this article) |
5/35. Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated plasma levels of creatine phosphokinase and acyl-carnitine and a fatty liver at biopsy suggesting a diagnosis of VLCAD deficiency. CONCLUSION: The diagnosis of very long-chain acyl-CoA dehydrogenase deficiency was supported by the results of acyl-CoA dehydrogenase activity for C8 and C16 fatty acids in skin fibroblasts from the patient. Treatment with medium chain triglycerides and L-carnitine in the diet improved his hepatomegaly and cardiomegaly.- - - - - - - - - - ranking = 31.949895958834keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
6/35. Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.We report five families with trifunctional protein deficiency in which, during pregnancy, three mothers experienced significant hepatic disease when carrying an affected fetus. Diagnoses were based on increased levels of long-chain hydroxyacylcarnitines and deficiencies of 3-hydroxyacyl-coa dehydrogenase (LCHAD) and 3-ketoacyl-CoA thiolase activity in fibroblasts. All affected infants lacked the common E474Q mutation associated with isolated LCHAD deficiency. This mutation is thought to be a predisposing factor for maternal hepatic disease in pregnancy. Our findings suggest that other defects in this enzyme complex might be responsible for maternal hepatic complications in pregnancy.- - - - - - - - - - ranking = 2.5138527788699keywords = dehydrogenase, deficiency (Clic here for more details about this article) |
7/35. fatty liver and elevated transaminases with heterozygous apolipoprotein B deficiency.Asymptomatic fatty liver and elevated transaminases is a common occurrence with varied etiology. Apolipoprotein (apo) B deficiency is an uncommon cause of fatty liver and elevated transaminases. The typical lipid profile low cholesterol low LDL (low density lipoprotein) suggests diagnosis of apo B deficiency and an invasive procedure like liver biopsy can be avoided in such patients.- - - - - - - - - - ranking = 1.8166233346438keywords = deficiency (Clic here for more details about this article) |
8/35. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme a dehydrogenase deficiency.There is a correlation between pregnancy complications such as acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency. We diagnosed another fatty acid beta-oxidation defect, short-chain acyl-coenzyme a dehydrogenase deficiency, in an infant when evaluating him because his mother had acute fatty liver of pregnancy. Other beta-oxidation defects, in addition to LCHAD deficiency, should be considered in children born after pregnancies complicated by liver disease.- - - - - - - - - - ranking = 31.252666514608keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
9/35. Antiretroviral-induced hepatic steatosis and lactic acidosis: case report and review of the literature.As the prevalence of human immunodeficiency virus (hiv) infection continues to rise the clinician is encountered with a diagnostic challenge. Nonsurgical diseases such as acute colitis or enteritis can appear similar to such true surgical emergencies as abscess, perforation, or mesenteric ischemia. We report a case of fulminant hepatic failure associated with didanosine and masquerading as a surgical abdomen and compare the clinical, biologic, histologic, and ultrastructural findings with reports described previously. This entity should be kept in mind when evaluating the acute abdomen in the hiv-positive patient.- - - - - - - - - - ranking = 0.30277055577397keywords = deficiency (Clic here for more details about this article) |
10/35. prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.We report the occurrence of multiple acyl-CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non-consanguineous couple. In the first pregnancy, the maternal serum alpha-fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy. Postmortem examination confirmed the cystic renal disease and showed hepatic steatosis, raising the suspicion of a metabolic disorder. The diagnosis of MADD was made by immunoblot studies on cultured fibroblasts. In the subsequent pregnancy, a sonogram at 15 weeks' gestation showed an early growth delay but normal kidneys. The maternal serum and amniotic fluid concentrations of alpha-fetoprotein were elevated, and the amniotic fluid acylcarnitine profile was consistent with MADD. in vitro metabolic studies on cultured amniocytes confirmed the diagnosis. A follow-up sonogram showed cystic renal changes. These cases provide additional information regarding the evolution of renal changes in affected fetuses and show a relationship with elevated alpha-fetoprotein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated alpha-fetoprotein and cystic renal disease. Early growth delay may be an additional feature.- - - - - - - - - - ranking = 29.949895958834keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
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