Results 141 to 150 of about 8,189 (189)

Hepatoblastoma in a patient with methylmalonic aciduria

American Journal of Medical Genetics Part A, 2015
Childhood malignant tumors and their treatment are not well described in the natural history of methylmalonic aciduria (MMA). Here we present a case of hepatoblastoma occurring in the native liver of a 19‐month‐old male with MMA. His tumor was unresectable at diagnosis and he received neoadjuvant chemotherapy with cisplatin, 5‐fluorouracil and ...
Randall, Chan, Leo, Mascarenhas, Richard G, Boles, Nanda, Kerkar, Yuri, Genyk, Rajkumar, Venkatramani   +5 more
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PRENATAL DIAGNOSIS OF METHYLMALONIC ACIDURIA

Acta Paediatrica, 1975
Abstract. Mahoney, M. J., Rosenberg, L. E., Lindblad, B., Waldenström, J. and Zetterström, R. (Departments of Human Genetics and Pediatrics, Yale University, New Haven, USA, the Department of Clinical Chemistry, University of Gothenburg, Gothenburg, Sweden and the Department of Pediatrics, Karolinska Institutet, St.
M J, Mahoney, L E, Rosenberg, B, Lindblad, J, Waldenström, R, Zetterström   +4 more
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Prenatal Diagnosis of Methylmalonic Aciduria

Pediatrics, 1974
The abnormal accumulation of small molecular weight metabolites in amniotic fluid in inborn errors of metabolism is unusual and prenatal diagnosis usually requires amniotic cell culture and specific enzyme assay. However, Morrow et al.1 reported raised concentrations of methylmalonic acid in the amniotic fluid of a pregnancy at risk from methylmalonic ...
D, Gompertz, P A, Goodey, J M, Saudubray, C, Charpentier, A, Chignolle, S, Girard   +5 more
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Methylmalonic Aciduria with Homocystinuria

1984
Methylmalonic aciduria with homocystinuria (McKusick 27740) is a disorder of the cytosolic metabolism of cobalamin (Levy et al., 1970) which involves an impaired synthesis of the two cobalamin forms 5’-deoxyadenosyl-cobalamin (AdoCbl) and methyl-cobalamin (MeCbl), which act as coenzymes in the two cobalamin-dependent reactions demonstrated conclusively
A, Ribes, M A, Vilaseca, P, Briones, A, Maya, J, Sabater, P, Pascual, L, Alvarez, J, Ros, E, Gonzalez Pascual   +8 more
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The Use of Neomycin in the Treatment of Methylmalonic Aciduria

Pediatrics, 1972
Two trials of oral neomycin therapy resulted in the reduction of the urinary excretion of methylmalonic acid and a fall in the plasma level of this metabolite in a child suffering from methylmalonic aciduria. It is quite probable that the antibiotic effect on the gastrointestinal bacteria resulted in decreased propionate production; propionate is the ...
S E, Snyderman, C, Sansaricq, P, Norton, S V, Phansalkar   +3 more
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Methylmalonic aciduria: current faces of a “classical” organic aciduria

Journal of Inherited Metabolic Disease, 2008
Methylmalonic aciduria (MMA) was first described about forty years ago. Since then, it has been frequently classified as a Bclassical organic aciduria. This term, to a less informed reader, could suggest that the condition is well-known, with little new information about it.
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Gene induction for the treatment of methylmalonic aciduria

The Journal of Gene Medicine, 2009
AbstractBackgroundMethylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl‐coenzyme A mutase (MCM), resulting in reduced levels of enzyme activity. The pharmacological up‐regulation of residual mutase activity is one approach to advance treatment
Ruimei, Hu, Nicole E, Buck, Mahmoud S, Khaniani, Leonie, Wood, Hady, Wardan, Jean-Francois, Benoist, Lingli, Li, Jim, Vadolas, Joseph P, Sarsero, Panos A, Ioannou, Heidi L, Peters   +10 more
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Amniotic fluid propionylcarnitine in methylmalonic aciduria

Journal of Inherited Metabolic Disease, 1987
SummaryAmniotic fluid samples from pregnancies complicated by foetal methylmalonic aciduria and from metabolically normal pregnancies were obtained at 16–18 weeks of gestation and analysed for total, free and acylcarnitine and individual carnitine esters.
D, Penn, E, Schmidt-Sommerfeld, C, Jakobs, L L, Bieber   +3 more
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First trimester diagnosis of methylmalonic aciduria

Prenatal Diagnosis, 1988
AbstractWe have studied methylmalonyl CoA mutase activity in control chorionic villi to establish the potential use of assays performed directly on this tissue for prenatal diagnosis of methylmalonic aciduria. We report the detection of a fetus affected with the apo‐mutase deficient form of this condition at 9 weeks' gestation. Methylmalonyl CoA mutase
B, Fowler, L, Giles, I B, Sardharwalla, P, Donnai, J K, Clayton   +4 more
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Spondylocostal Dysostosis Associated with Methylmalonic Aciduria

Genetic Testing and Molecular Biomarkers, 2009
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism.
Rachel S, Honjo, Erasmo B, Casella, Maria A, Vieira, Débora R, Bertola, Lilian M J, Albano, Luiz A, Oliveira, Shosuke, Nomachi, Junji, Hanai, Jean-François, Benoist, Sian, Ellard, Elizabeth, Young, Chong A, Kim   +11 more
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