Results 91 to 100 of about 2,508,935 (158)
Immunodeficiency in methylmalonic acidaemia
, 1992 Three Chinese infants with methylmalonic acidaemia were described. They presented in the neonatal period with recurrent episodes of poor feeding, lethargy, apnoea and severe acidosis.
L. C‐K. LOW +9 more
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Molecular MedicineMethylmalonic acidemia (MMAemia) is an inborn error of organic acid metabolism characterized by the accumulation of toxic metabolites—including methylmalonic acid (MMA), 2-methylcitric acid (2-MCA), propionic acid (PA), homocysteine (Hcy), ammonia, and ...
Mengmeng Du +5 more
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Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector
, 2014 Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, resulting in high morbidity and mortality. Positive results from combined liver/kidney transplantation suggest, however, that metabolic sink therapy ...
Wong, E. +5 more
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Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia
Molecular and Cellular PediatricsBackground Methylmalonic acidemia (MMA), the most prevalent type of inherited metabolic disorder, is inherited in an autosomal recessive pattern due to MUT gene mutations that impair methylmalonyl-CoA mutase (MCM) enzyme activity. These mutations lead to
Shuruq Alsuhaymi +8 more
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Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Introduction Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult.
Serrano Moreno, Clara +6 more
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Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan [PDF]
, 2018 Objective: To determine the frequency of disorders leading to methylmalonic acidurias. Methods: This cross-sectional study was conducted from January 2013 to April 2016 at the Aga Khan University Hospital, Karachi, and comprised patients diagnosed with ...
Jamil, Azeema +7 more
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Mitochondrial Energy Metabolism In Neurodegeneration Associated With Methylmalonic Acidemia.
, 2015 Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. In vitro experiments, animal model studies and tissue analyses from human patients suggest extensive impairment of mitochondrial energy ...
Melo, Daniela R +3 more
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Comparison of tissue and plasma methylmalonic acid levels in the MMA stop codon rescue mice.
, 2013 Tissue results presented as mean µmol/g tissue ± SEM (n = 8). Control samples had less than 15 µmol/g tissue. Plasma results presented as mean concentration (µmol/L) ± SEM (n = 8), control plasma samples had less than 1 µmol/L methylmalonic acid.
Leonie R. Wood (307547) +4 more
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, 2007 Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin.
Gradinger, Abigail.
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