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Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD). 2012

Y Trakadis, and D Kadlubowska, and R Barnes, and J Mitchell, and E Spector, and F Frerman, and S Melancon
Department of Medical Genetics, McGill University, Montreal, Canada.

We describe the pregnancy of a patient of French-Canadian descent with multiple Acyl-CoA dehydrogenation deficiency (MADD). The proband was found to harbor a previously reported homozygous missense mutation on EFTDH gene (p.Pro534Leu:c.1601C>T) confirming the biochemical diagnosis of MADD. This mutation was not found in 50 controls from the same ethnic background. The clinical and molecular information of all patients with ETFDH mutations reported in the literature up-to-date are summarized.

UI MeSH Term Description Entries
D007506 Iron-Sulfur Proteins A group of proteins possessing only the iron-sulfur complex as the prosthetic group. These proteins participate in all major pathways of electron transport: photosynthesis, respiration, hydroxylation and bacterial hydrogen and nitrogen fixation. Iron-Sulfur Protein,Iron Sulfur Proteins,Iron Sulfur Protein,Protein, Iron-Sulfur,Proteins, Iron Sulfur,Proteins, Iron-Sulfur,Sulfur Proteins, Iron
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011248 Pregnancy Complications Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases. Adverse Birth Outcomes,Complications, Pregnancy,Adverse Birth Outcome,Birth Outcome, Adverse,Complication, Pregnancy,Outcome, Adverse Birth,Pregnancy Complication
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000587 Oxidoreductases Acting on CH-NH Group Donors Enzymes catalyzing the dehydrogenation of secondary amines, introducing a C Secondary Amine Oxidoreductases,Amine Oxidoreductases, Secondary Amine,Amine Oxidoreductases, Secondary,Oxidoreductases Acting on CH NH Group Donors,Oxidoreductases, Secondary Amine
D044927 Electron-Transferring Flavoproteins Flavoproteins that serve as specific electron acceptors for a variety of DEHYDROGENASES. They participate in the transfer of electrons to a variety of redox acceptors that occur in the respiratory chain. ET Flavoprotein,Electron Transfer Flavoprotein,Electron-Transferring Flavoprotein,Electron Transferring Flavoprotein,Electron Transferring Flavoproteins,Flavoprotein, ET,Flavoprotein, Electron Transfer,Flavoprotein, Electron-Transferring,Flavoproteins, Electron-Transferring,Transfer Flavoprotein, Electron
D054069 Multiple Acyl Coenzyme A Dehydrogenase Deficiency An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). ETFA Deficiency,ETFB Deficiency,ETFDH Deficiency,Electron Transfer Flavoprotein Alpha Subunit Deficiency,Electron Transfer Flavoprotein Beta Subunit Deficiency,Electron Transfer Flavoprotein Deficiency,Electron Transfer Flavoprotein Dehydrogenase Deficiency,Ethylmalonic-Adipic Aciduria,Ethylmalonic-Adipicaciduria,Glutaric Acidemia Type II,Glutaric Acidemia, Type 2,Glutaric Aciduria II,Glutaric Aciduria IIA,Glutaric Aciduria IIB,Glutaric Aciduria IIC,Glutaric Aciduria Type 2,Glutaric Aciduria Type II,Glutaric Aciduria, Type 2,MADD (Multiple Acyl-CoA Dehydrogenase Deficiency),Multiple Acyl-CoA Dehydrogenase Deficiency,Multiple FAD Dehydrogenase Deficiency,Aciduria, Ethylmalonic-Adipic,Acidurias, Ethylmalonic-Adipic,ETFA Deficiencies,ETFB Deficiencies,ETFDH Deficiencies,Ethylmalonic Adipic Aciduria,Ethylmalonic Adipicaciduria,Ethylmalonic-Adipic Acidurias,MADD (Multiple Acyl CoA Dehydrogenase Deficiency),MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency),Multiple Acyl CoA Dehydrogenase Deficiency
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults

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