Results 41 to 50 of about 12,046 (150)
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
Metabolites, 2023 Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways.
Loai A. Shakerdi +4 more
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Early neonatal presentation of methylmalonic aciduria: a case report from rural central India
International Journal of Contemporary Pediatrics, 2023 Methylmalonic aciduria (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine.
Sneha Barahate +4 more
semanticscholar +1 more source
Mouse models for methylmalonic aciduria. [PDF]
PLoS ONE, 2012 Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality ...
Heidi L Peters +5 more
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bioRxiv, 2022 MMUT-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function of the methylmalonyl-CoA mutase (MMUT) enzyme. Patients develop symptoms resembling those of primary mitochondrial disorders, but the underlying causes ...
Charlotte Ramon +4 more
semanticscholar +1 more source
Crystals, 2022 MMACHC is an essential protein for the body to metabolise vitamin B12, and its deficiency will cause cblC-type methylmalonic aciduria and homocystinuria. MMACHC can interact with cyanocobalamin (a type of vitamin B12) cofactor and plays an important role
Qin Xu +9 more
semanticscholar +1 more source
Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9
Molecular Genetics & Genomic Medicine, 2022 Background Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a
Yi‐ming Chen +9 more
doaj +1 more source
International Journal of Neonatal Screening, 2020 Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as ...
Lene Sörensen +9 more
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Diagnosis of Methyl Malonicaciduria from 2013 to 2018
Revista Finlay, 2020 Foundation: methylmalonic aciduria is one of the most frequent organic acidurias and groups together a set of genetic defects, characterized by the excretion of elevated levels of urinemethyl malonic acid.
Alina Concepción Álvarez +5 more
doaj +2 more sources
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
Cell Reports, 2017 Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An +23 more
doaj +1 more source
Vitamin B12 Deficiency and Infantile Convulsions
Pediatric Neurology Briefs, 1999 The association of vitamin B12 deficiency and benign familial infantile convulsions (BFIC) is reported in one 4-month-old boy admitted to the University Hospital, Lund, Sweden, and in an additional 4 of 14 infants with BFIC who were found to have ...
J Gordon Millichap
doaj +1 more source