decanoylcarnitine and Muscular-Diseases

decanoylcarnitine has been researched along with Muscular-Diseases* in 1 studies

Other Studies

1 other study(ies) available for decanoylcarnitine and Muscular-Diseases

Article	Year
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis. European journal of medical genetics, 2015, Volume: 58, Issue:3 Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare mitochondrial fatty acid β-oxidation disorder. We aimed to explore the clinical, biochemical, and genetic findings, treatments and outcomes in eight Chinese VLCADD patients.. Eight patients from six unrelated Chinese families with symptomatic VLCADD were diagnosed in the past 4 years. The clinical features and ACADVL gene mutations were analyzed.. One patient underwent newborn screening and has been treated timely, she hardly had any symptoms. The remaining seven patients were found because of edema, diarrhea, coma, liver damage and psychomotor retardation. Seven patients had fatty liver. Five had myopathy. All patients had elevated blood tetradecanoylcarnitine. Nine heterozygous mutations of the ACADVL gene were found. Three (c.1102C > T, c.1795G > A and IVS10, +6T > A) were novel. Seven patients completely recovered after treatment. One patient died before diagnosis due to cardiomyopathy. His mother underwent amniocentesis for prenatal diagnosis. The fetus had the same gene mutation of the proband and markedly elevated tetradecanoylcarnitine in amniotic fluid. The boy has been treated after birth and he is healthy now.. Dietary treatment usually leads to good outcomes to VLCADD patients. Amniocytes ACADVL mutations and amniotic fluid tetradecanoylcarnitine analysis are useful for the prenatal diagnosis. Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Amniotic Fluid; Ascorbic Acid; Asian People; Bezafibrate; Carnitine; Case-Control Studies; China; Chromatography, Liquid; Congenital Bone Marrow Failure Syndromes; DNA, Complementary; Exons; Female; Genetic Testing; Heterozygote; Humans; Infant; Infant Formula; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Mutation, Missense; Neonatal Screening; Prenatal Diagnosis; Sequence Alignment; Sequence Analysis, DNA; Tandem Mass Spectrometry; Treatment Outcome; Triglycerides; Vitamin B Complex	2015

Article

Year

Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.

European journal of medical genetics, 2015, Volume: 58, Issue:3

Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare mitochondrial fatty acid β-oxidation disorder. We aimed to explore the clinical, biochemical, and genetic findings, treatments and outcomes in eight Chinese VLCADD patients.. Eight patients from six unrelated Chinese families with symptomatic VLCADD were diagnosed in the past 4 years. The clinical features and ACADVL gene mutations were analyzed.. One patient underwent newborn screening and has been treated timely, she hardly had any symptoms. The remaining seven patients were found because of edema, diarrhea, coma, liver damage and psychomotor retardation. Seven patients had fatty liver. Five had myopathy. All patients had elevated blood tetradecanoylcarnitine. Nine heterozygous mutations of the ACADVL gene were found. Three (c.1102C > T, c.1795G > A and IVS10, +6T > A) were novel. Seven patients completely recovered after treatment. One patient died before diagnosis due to cardiomyopathy. His mother underwent amniocentesis for prenatal diagnosis. The fetus had the same gene mutation of the proband and markedly elevated tetradecanoylcarnitine in amniotic fluid. The boy has been treated after birth and he is healthy now.. Dietary treatment usually leads to good outcomes to VLCADD patients. Amniocytes ACADVL mutations and amniotic fluid tetradecanoylcarnitine analysis are useful for the prenatal diagnosis.

Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Amniotic Fluid; Ascorbic Acid; Asian People; Bezafibrate; Carnitine; Case-Control Studies; China; Chromatography, Liquid; Congenital Bone Marrow Failure Syndromes; DNA, Complementary; Exons; Female; Genetic Testing; Heterozygote; Humans; Infant; Infant Formula; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Mutation, Missense; Neonatal Screening; Prenatal Diagnosis; Sequence Alignment; Sequence Analysis, DNA; Tandem Mass Spectrometry; Treatment Outcome; Triglycerides; Vitamin B Complex

2015