MCAD deficiency
Establishing core outcome sets for phenylketonuria (PKU) and medium chain Acyl CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys
... MCAD deficiency is an inborn error of the MCAD en- zyme leading to impaired oxidation of medium-chain fatty ...with MCAD defi- ciency, there is considerable practice variation [55] and ...
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A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
... mild MCAD deficiency (MCADD) was based on rates of 1- 14 C-octanoate and 9, 10- 3 H-myristate oxidation and of octanoyl-CoA dehydro- genase being reduced to 25% of control ...
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Economics of tandem mass spectrometry screening of neonatal inherited disorders
... MCAD deficiency up to June 2003 were included in the re- views. The model adopted a conservative assumption that the false-negative rates for PKU were the same for existing and tandem MS screening ...
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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
... with MCAD deficiency, regardless of the ACADM genotype ...with MCAD deficiency similarly is debatable, in particular with regards to the advice on maximum duration of fasting ...residual ...
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Molecular basis of medium chain acyl coenzyme A dehydrogenase deficiency An A to G transition at position 985 that causes a lysine 304 to glutamate substitution in the mature protein is the single prevalent mutation
... three MCAD-deficient ...nine MCAD-deficient patients were tested with this method, the copies from all of them completely cleaved into two shorter fragments by Nco I, indicating their homozygosity for the ...
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Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients
... LCHAD deficiency may be explained by 2 ...In MCAD deficiency, there is no pro- duction of toxic long-chain acyl-CoA esters and it is still possible to oxidize long-chain fatty acids to me- dium-chain ...
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Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis
... 12. Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. Medium-chain acyl-CoA dehydrogenase (MCAD) ...
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Newborn screening using tandem mass spectrometry: A systematic review
... for MCAD deficiency has not yet been introduced in the UK, primarily because this disorder is not detectable with current screening ...of MCAD deficiency and concerns about the specificity of ...
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Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency
... Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency (MCADD) is an autosomal recessive inherited fatty acid oxidation disorder. In MCADD, mitochondria cannot process medium- chain fatty acids via ...
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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
... with MCAD deficiency rela- tive to children with negative newborn screening results: physician encounters (adjusted IRR [aIRR]: ...with MCAD deficiency to those among screen-negative children ...
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Impaired Antigen-Specific Immune Response to Vaccines in Children with Antibody Production Defects
... a deficiency in one or more major immunoglobulin classes participated in the ...A deficiency of antibodies against the tetanus toxoid was assessed in 73% of cases and that against the diphtheria toxoid was ...
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Celiac Disease: Presentation of 109 Children
... A deficiency was ...iron deficiency, prolonged prothrombine time, hypoalbuminemia, and elevated transaminase levels were more significantly frequent in the classical type than atypical type (p < ...
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FACTORS THAT CAN LEAD TO THE DEVELOPMENT OF SKELETAL DEFORMITIES IN FISHES: A REVIEW
... phosphorus deficiency, vitamin C deficiency, vitamin K deficiency and hypervitaminosis A can lead to twisted neural and hemal spines, development of soft bones, decreased bone mass, vertebral fusion, ...
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Clinicopathological features and BRAFV600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis
... hormone deficiency is the most frequent disease-related anterior pituitary deficiency and is found in up to 50 % of patients, followed by gonadotrophin deficiency, but ACTH and TSH are relatively ...
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Genetic deficiency of short chain acyl coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness
... Genetic deficiency of short-chain acyl-coenzyme A (CoA) dehydrogenase activity was demonstrated in cultured fibroblasts from a 2-yr-old female whose early postnatal life was complicated by poor feeding, emesis, ...
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Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
... to MCAD de- fi ciency, this infant presented with car- diac electrical ...in MCAD de fi ciency, to our knowledge the association of a prolonged QTc interval has not been ...
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Yin Yang 1 facilitates hepatocellular carcinoma cell lipid metabolism and tumor progression by inhibiting PGC-1β-induced fatty acid oxidation
... Lipid accumulation is a driving force in tumor development, as it provides tumor cells with both energy and the building blocks of phospholipids for construction of cell membranes. Aberrant homeostasis of lipid ...
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Iron Deficiency and Iron Deficiency Anemia in Children with Febrile Seizure
... 19.Kobrinsky NL, Yager JY, Cheang MS, Yatscoff RW, Tenenbein M. Does iron deficiency raise the seizure threshold? J Child Neurol 1995;10(2):105-9. 20.Talebian A,Momtazmanesh N, Moosavi SGH, Khojasteh MR. The ...
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Development of a Chinese medicine pattern severity index for understanding eating disorders
... Cold Deficiency were found to be strongly expressed by those with an eating disorder of any ...Qi Deficiency, Liver Qi Stagnation, and Sto- mach Heat, Spleen, and Stomach Cold Deficiency and Heart Qi ...
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Iron deficiency in pregnancy
... Iron deficiency when associated with increased oxidative stress could damage the placenta during early development ...iron deficiency anaemia can be associated with palpitations, tiredness, shortness of ...
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