Dehydrogenase deficiency
Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France
... Background: Five diseases are currently screened on dried blood spots in France through the national newborn screening programme. Tandem mass spectrometry (MS/MS) is a technology that is increasingly used to screen ...
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
... Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited fatty acid β- oxidation (FAO) defect and is a potentially fatal disorder. FAO is a metabolic pathway of particular ...
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Hidden Risks: Early Discharge and Bilirubin Toxicity Due to Glucose 6-Phosphate Dehydrogenase Deficiency
... Hidden Risks: Early Discharge and Bilirubin Toxicity Due to Glucose.. 6-Phosphate Dehydrogenase Deficiency.[r] ...
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Genetic diversity of the “Mediterranean” glucose 6 phosphate dehydrogenase deficiency phenotype
... (glucose-6-phosphate dehydrogenase) deficiency was revealed when detailed studies were performed on blood specimens from 79 Greek males with G-6-PD levels 0-10% of ...
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Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency
... Differential diagnosis. The differential diagnosis for a child presenting with hypoglycemia and encepha- lopathy is broad, including infectious and many toxic/metabolic causes. The classic presentation of hypoketotic ...
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2 methylbutyryl CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
... Our patient exhibited developmental abnormalities com- patible with autism, thus expanding the clinical spectrum of this rare biochemical disorder. Developmental regres- sion has so far not been observed in SBCADD. ...
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Hyperbilirubinaemia and erythrocytic glucose 6 phosphate dehydrogenase deficiency in Malaysian children
... Hyperbilirubinaemia and erythrocytic glucose 6 phosphate dehydrogenase deficiency in Malaysian children Med J Malaysia Vol 44 No 1 March 1989 Hyperbilirubinaemia and erythrocytic glucose 6 phosphate d[.] ...
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Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5 fluorouracil toxicity
... DPD deficiency was first described in pediatric patients ex- hibiting thymine-uraciluria, which is associated with a variety of symptoms including convulsive disorders (epilepsy), micro- cephaly, and mental ...
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Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
... MCAD deficiency in the neonatal period, sudden death is still reported in these ...MCAD deficiency are at high risk for metabolic crisis and sudden death even after diag- nosis of the disease through ...
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Frequency of malaria and glucose 6 phosphate dehydrogenase deficiency in Tajikistan
... G6PD deficiency appear to be related to the ethnic com- position of the study populations rather than to malaria incidence rates or other potential ...G6PD deficiency among refu- gees in Northern Pakistan: ...
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Glucose 6 phosphate dehydrogenase deficiency, chlorproguanil dapsone with artesunate and post treatment haemolysis in African children treated for uncomplicated malaria
... The biomolecular approach used is appropriate when G6PD-deficiency type is known. In sub-Saharan Africa, G6PD type A- is extremely common but can be caused by several mutations. Genotypes A- with different ...
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The Effect of Glucose 6-Phosphate Dehydrogenase Deficiency (G6PDd) and Haemoglobin Variants on Malaria in Port Harcourt, Rivers State, Nigeria
... Table 4.2; shows comparison of malaria infection and G6PD status among the subjects based on Genotype. A total of eight hundred and twenty- eight (828) participated in the study. Of this, five hundred and seven (507) ...
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The prevalence of glucose 6 phosphate dehydrogenase deficiency in Gambian school children
... G6PD status is determined by molecular and/or bio- chemical methods [17]. Screening tests involve either quan- titative or qualitative measurements of enzyme activity but are affected by several factors [18] and have ...
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Prevalence of glucose 6 phosphate dehydrogenase deficiency in Cameroonian blood donors
... We assessed the prevalence of G6PD deficiency and its association with infectious disease screening Cameroo- nian blood donors at Mbingo Baptist Hospital (Mbingo, Cameroon). Per the previously established Mbingo ...
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Ketonic Diet in the Management of Pyruvate Dehydrogenase Deficiency
... me, $-hydroxybutyrate, and citrate and urinary lactate, pyruvate, alanine, and /9-hydroxybutyrate were measured after the patients had eaten the “¿normal― or high-fat diets for five [r] ...
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Recurrent Myoglobinuria as a Presenting Manifestation of Very Long Chain Acyl Coenzyme A Dehydrogenase Deficiency
... Laboratory examinations revealed: creatine phosphokinase (CPK) 130 790 U (N 5 0 –154); lactate dehydrogenase 5513 U (N 5 240 –580); serum glutamic-oxaloacetic transaminase U 2485 (N 5 7–34); and CPK isoenzymes MM ...
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Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review
... Genetic screening was performed in the alpha ETF (ETFA), beta ETF (ETFB), and ETF dehydrogenase (ETFDH) genes. A common mutation C.770A>G (p.T257C) in Chinese population was identified in exon 7 of the ETFDH ...
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Glucose-6-Phosphate Dehydrogenase Deficiency
... and tested for not only in Negro men who are taking oxidant drugs, but also in Negro women and during acute infections whether drug s are used or not. The relationship[r] ...
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ERYTHROCYTE GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY: EVIDENCE OF DIFFERENCES BETWEEN NEGROES AND CAUCASIANS WITH RESPECT TO THIS GENETICALLY DETERMINED TRAIT
... Subjects whose level of Leukocyte glucose-6-phosphate dehydrogenase activity among normal subjects and persons with a deficiency of dehydrogenase in erythrocytes was less than 3.0 this e[r] ...
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Glutaryl-Coenzyme A Dehydrogenase Deficiency: A Distinct Encephalopathy
... Further dietary reduction of lysine and tryptophan did not lower plasma glutanic acid levels. Instead,[r] ...
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