A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA) [PDF]
JIMD ReportsCombined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello +9 more
doaj +4 more sources
Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type [PDF]
HeliyonMethylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated
Etienne Mondesert +8 more
doaj +3 more sources
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations [PDF]
Molecular Genetics and Metabolism Reports, 2020 Introduction: Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (cblA – type MMA), conditioned by
Dorota Wesół-Kucharska +8 more
doaj +3 more sources
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria [PDF]
Communications BiologyMethylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly
Matthew C. S. Denley +12 more
doaj +3 more sources
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. [PDF]
Hum Mol Genet, 2023 Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria (MMAuria), present unique challenges to energetic homeostasis by disrupting energy producing pathways. To better understand global responses to energy shortage, we
Lucienne M +23 more
europepmc +4 more sources
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria [PDF]
Orphanet Journal of Rare Diseases, 2020 Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism which has been proposed being a benign condition. However, older patients may present with neurological manifestations such as seizures, memory problems, psychiatric ...
Sara Tucci
doaj +3 more sources
Renal Involvement in Methylmalonic Aciduria [PDF]
Kidney International Reports, 2017 Ahmed M. Alkhunaizi, Nouriya Al-Sannaa
doaj +5 more sources
A Multi-Omics Framework for Decoding Disease Mechanisms: Insights From Methylmalonic Aciduria. [PDF]
Mol Cell ProteomicsFu J +9 more
europepmc +4 more sources
Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families. [PDF]
Iran Biomed J, 2023 Background: Methylmalonic aciduria is a rare inherited metabolic disorder with autosomal recessive inheritance pattern. There are still MMA patients without known mutations in the responsible genes.
Jafari M +7 more
europepmc +2 more sources
The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria. [PDF]
Sci Rep, 2023 Methylmalonic aciduria (MMA-uria) is caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). MUT deficiency hampers energy generation from specific amino acids, odd-chain fatty acids and cholesterol.
Schumann A +7 more
europepmc +2 more sources