Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria
Journal of Inherited Metabolic Disease, 2023 Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalopathies, and some long‐term complications, such as optic neuropathy, pancreatic involvement, developmental disability ...
A. Chakrapani +5 more
semanticscholar +1 more source
Gene identification for the cblD defect of vitamin B12 metabolism [PDF]
, 2008 Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R +7 more
core +1 more source
Rapid healing of a patient with dramatic subacute combined degeneration of spinal cord: a case report [PDF]
, 2017 Background: Prevalence of cobalamin deficiency is high especially in older patients and an immediate therapy start is necessary to prevent irreversible neurological damages. Unfortunately, the diagnosis of cobalamin deficiency is difficult and at present,
Roessler, Florian C., Wolff, Stephanie
core +3 more sources
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
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
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
doaj +1 more source
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. [PDF]
, 2016 Using 3D organotypic rat brain cell cultures in aggregates we recently identified 2-methylcitrate (2-MCA) as the main toxic metabolite for developing brain cells in methylmalonic aciduria.
Ballhausen, D. +8 more
core +1 more source
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
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing [PDF]
, 2015 The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome ...
Constantinou, Panayiotis +6 more
core +1 more source