11/63. Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin k deficiency.BACKGROUND: 2-Methylacyl-CoA racemase interconverts the 2-methyl group of pristanoyl-CoA or the 25-methyl group of hydroxylated cholestanoyl-CoAs, allowing further peroxisomal desaturation of these compounds in man by the branched chain acyl-coa oxidase, which recognise only the S-isomers. Hence, oxidation studies in fibroblasts, currently based on the use of racemic substrates such as [1-14C] pristanic acid, do not allow us to distinguish between a deficient racemase or an impaired oxidase. DESIGN: To evaluate the racemase activity directly, the 2R-isomer of[1-14C] pristanic acid, as well as the 2R-isomer of 2-methyl-[1-14C] hexadecanoic, a synthetic pristanic acid substitute, were prepared and their degradation by cultured human skin fibroblasts was compared to that of the racemic substrates. RESULTS: In fibroblasts in a young girl, presenting with elevated urinary levels of trihydroxycholestanoic acid metabolites but normal plasma levels of very long chain fatty acids, a partial deficient degradation of racemic [1-14C] pristanic acid was observed. Incorporation of 2R-[1-14C] pristanic acid in glycerolipids of the patient's fibroblasts proceeded normally, but breakdown was impaired. Similar findings were seen with the 2R-isomer of 2-methyl-[1-14C] hexadecanoic. These data, combined with the fact that the branched chain acyl-coa oxidase, catalyzing the first oxidation step of pristanic acid and bile acid intermediates in man, appeared normal, suggested a peroxisomal beta-oxidation defect in the patient at the level of 2-methylacyl-CoA racemase. CONCLUSION: Carboxy-labelled 2R-methyl branched chain fatty acids might be useful tools to document cases of racemase deficiencies. Because a brother of the patient died with a diagnosis of vitamin k deficiency, an impaired racemase might be responsible for other cases of unexplicable malabsorption.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
12/63. Active crohn disease with maternal vitamin k deficiency and fetal subdural hematoma.BACKGROUND: Fetal subdural hematoma is a rare condition not considered a complication of crohn disease in pregnancy. CASE: A young woman with a diagnosis of crohn disease presented at 22 weeks' gestation with diarrhea and melena for 3 weeks. Dietary and medicinal therapies were begun. At 28 weeks' gestation, fetal ultrasonography showed an intracranial mass, which was seen to expand on serial ultrasound and magnetic resonance imaging studies. A hematoma was suspected, and, although the mother had no overt hemorrhagic manifestations, maternal vitamin k deficiency was diagnosed by enzyme immunoassay and corrected. After cesarean delivery at 36 weeks' gestation, the newborn was normal, but magnetic resonance imaging showed a chronic subdural hematoma. CONCLUSION: Maternal vitamin k deficiency in active crohn disease might cause fetal hemorrhage. Monitoring of vitamin K status during pregnancy with crohn disease seems warranted.- - - - - - - - - - ranking = 0.46153846153846keywords = deficiency (Clic here for more details about this article) |
13/63. Adrenal hemorrhage due to vitamin-K deficiency.Adrenal hemorrhage has many etiologies including bleeding diathesis. A 10-day-old female baby was admitted to our clinic with the complaint of abdominal distention. Hemorrhage was determined on the right adrenal gland with abdominal ultrasonography and computerized tomography. Laboratory investigations showed PT 44 sec and aPTT longer than one minute. This article reports here an infant diagnosed as adrenal hemorrhage due to Vitamin-K deficiency presenting as an abdominal mass.- - - - - - - - - - ranking = 0.38461538461538keywords = deficiency (Clic here for more details about this article) |
14/63. Deliberate self-poisoning with rodenticide: a diagnostic dilemma.A 71-year-old man presented with a recurrent bleeding diathesis requiring frequent blood transfusions, vitamin K and fresh frozen plasma. Extensive investigations revealed vitamin k deficiency. After repeated interviews the patient admitted to deliberately ingesting rat poison. Superwarfarins are an uncommon cause of deranged clotting and specialised tests are available to identify them. They can cause prolonged coagulation abnormalities and may require treatment with oral vitamin K for several months after just a single dose.- - - - - - - - - - ranking = 0.076923076923077keywords = deficiency (Clic here for more details about this article) |
15/63. cerebral hemorrhage associated with vitamin k deficiency in congenital tuberculosis treated with isoniazid and rifampin.We report a male infant with congenital tuberculosis who developed cerebral hemorrhage associated with vitamin k deficiency during treatment with isoniazid and rifampin. Despite an absence of risk factors for vitamin k deficiency, the severe hemorrhagic disorder occurred at 4 months of age. We speculate that vitamin k deficiency in the present case may have resulted from a synergic effect of antituberculosis agents and immaturity of vitamin K metabolism and/or its absorption.- - - - - - - - - - ranking = 0.53846153846154keywords = deficiency (Clic here for more details about this article) |
16/63. vitamin k deficiency and bleeding after long-term use of cholestyramine.Although it has been long known that in theory the use of cholestyramine can cause coagulopathy due to reduced absorption of vitamin K, only a few cases have been reported. In those cases the coagulopathy occurred within a few weeks to months after the start of therapy. We report a patient with severe pruritus due to intrahepatic cholestasis, who was on cholestyramine therapy for over 25 years before haemorrhage occurred. This case demonstrates that one should be aware of the possibility of depletion of fat-soluble vitamins during the long-term use of cholestyramine.- - - - - - - - - - ranking = 0.30769230769231keywords = deficiency (Clic here for more details about this article) |
17/63. Maternal total parenteral nutrition and fetal subdural hematoma.BACKGROUND: Fetal subdural hematoma is rare, and no case resulting from vitamin k deficiency secondary to maternal total parenteral nutrition has been reported. CASE: A 28-year-old woman was managed with total parenteral nutrition from 28 weeks' gestation because of continuous vomiting due to esophageal hiatal hernia. A sinusoidal pattern by cardiotocogram was observed at 31 weeks' gestation. Serial sonograms showed a fetal subdural hematoma, and cesarean delivery was performed. Although the maternal hepaplastin test result was normal and the maternal PIVKA-II concentration was only slightly elevated, the neonate was severely anemic and had severe vitamin k deficiency. CONCLUSION: Severe fetal vitamin k deficiency can develop even when the maternal deficiency is mild. When maternal total parenteral nutrition is necessary, supplemental vitamin K should be administered.- - - - - - - - - - ranking = 0.30769230769231keywords = deficiency (Clic here for more details about this article) |
18/63. Cervical spine stenosis and possible vitamin k deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system.We describe in this paper a patient with brachytelephalangic chondrodysplasia punctata (BCDP) who has multiple serious medical problems and striking physical abnormalities. These include cervical spine stenosis with resultant quadriplegia, severe nasal hypoplasia, and brachytelephalangy. Radiographs taken shortly after birth demonstrated extensive epiphyseal and vertebral stippling, and distal phalangeal hypoplasia. The pregnancy was complicated by maternal intestinal obstruction due to a small bowel carcinoma and probable malabsorption. The severity of the phenotype in this case may have been influenced by these maternal factors particularly vitamin k deficiency.- - - - - - - - - - ranking = 0.38461538461538keywords = deficiency (Clic here for more details about this article) |
19/63. skin necrosis and protein c deficiency associated with vitamin K depletion in a patient with renal failure.skin necrosis similar to that induced by warfarin was seen in a patient who had never received the drug but who was vitamin K-deficient due to malnutrition and prolonged treatment with broad-spectrum antibiotics. He also had end-stage renal failure and was receiving prophylactic subcutaneous heparin therapy because of immobilization. His plasma protein C antigen level and, disproportionately, his plasma protein C functional activity were decreased. Both protein C values improved after vitamin K therapy, discontinuation of heparin, and initiation of hemodialysis. We surmise that skin necrosis occurred as a result of protein c deficiency caused by vitamin K depletion. Production of abnormal (descarboxy) protein C/protein s due to vitamin k deficiency and increased protein C inhibitory activity associated with renal failure and/or heparin administration may have contributed to the clinical picture. This rare but serious complication of a relatively common disorder, viz., vitamin k deficiency, reinforces the importance of vitamin K supplementation in malnourished patients who receive long-term antibiotic maintenance therapy.- - - - - - - - - - ranking = 0.53846153846154keywords = deficiency (Clic here for more details about this article) |
20/63. Inherited vitamin k deficiency: case report and review of literature.Vitamin K is the cofactor for the hepatic carboxylation of glutamic acid residues in a number of proteins including the procoagulants factors II, VII, IX, and X. The role of vitamin K in normal bone function is not fully understood. Inherited deficiency of vitamin K dependent coagulation factors is a rare bleeding disorder reported only in a few patients. Here we present an 18-month old child who presented with osteopeni due to inherited vitamin k deficiency. While the patient had high bone specific alkaline phosphatase and parathyroid hormone levels and low osteocalcin and bone mineral density values, with the regular supplementation of vitamin K all the mentioned parameters returned to normal values.- - - - - - - - - - ranking = 0.46153846153846keywords = deficiency (Clic here for more details about this article) |
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