Results 191 to 200 of about 14,220 (236)

Methylmalonic and propionic aciduria

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2006
AbstractMethylmalonic and propionic aciduria (PA) are the most frequent forms of branched‐chain organic acidurias. These autosomal recessive disorders result from deficient activity of methylmalonyl‐CoA mutase and propionyl‐CoA carboxylase, respectively.
Federica, Deodato, Sara, Boenzi, Filippo M, Santorelli, Carlo, Dionisi-Vici   +3 more
openaire   +2 more sources

A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report

Neurocase, 2022
Combined methylmalonic acidemia and homocystinuria, is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. We report an 18-year-old Chinese male who presented with hypermyotonia, seizures, and congenital heart ...
Li Zhou, Qin Yang
semanticscholar   +1 more source

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
openaire   +2 more sources

Cranial Magnetic Resonance Imaging Findings in Hypotonic Infants with Cobalamin Deficiency and Combined Methylmalonic Aciduria and Homocystinuria.

Klinische Pädiatrie, 2022
Vitamin B12 begins to accumulate in infants within the first six months while mothers often remain asymptomatic and infantile vitamin B12 deficiency may not be noticed until the onset of neurological effects.
Beril Dilber, İ. Eyüboğlu
semanticscholar   +1 more source

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
openaire   +2 more sources

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
openaire   +2 more sources

The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.

Taiwanese Journal of Obstetrics & Gynecology, 2021
OBJECTIVES To investigate the phenotypes, biochemical features and genotypes for 244 pedigrees with methylmalonic aciduria (MMA) in China, and to perform the prenatal genetic diagnosis by chorionic villus for these pedigrees. MATERIALS AND METHODS Gene
Shuang Hu, X. Kong
semanticscholar   +1 more source

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
openaire   +2 more sources

Seven novel mutations inmut methylmalonic aciduria

Human Mutation, 1998
Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B12 derivative, adenosylcobalamin (AdoCbl) as a cofactor.
C E, Adjalla, A R, Hosack, B M, Gilfix, E, Lamothe, S, Sun, A, Chan, S, Evans, N V, Matiaszuk, D S, Rosenblatt   +8 more
openaire   +2 more sources

Lethal late onset cblB methylmalonic aciduria

Critical Care Medicine, 2000
To alert the physicians to the possibility of a late-onset inborn error of metabolism in an apparently previously healthy patient with acute clinical presentation.Case report.Pediatric unit and general intensive care unit.An apparently previously healthy 12-yr-old female presented acutely with vomiting, fever, bronchopneumonia, and progressive loss of ...
CIANI F, DONATI MA, TULLI G, POGGI, GIOVANNI MARIA, PASQUINI E, ROSENBLATT DS, ZAMMARCHI, ENRICO   +6 more
openaire   +3 more sources