New insights into the pathophysiology of methylmalonic acidemia
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12617
Abstract: Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. Treatment options are limited and non‐curative as the underlying causative molecular mechanisms remain unknown. While… read more here.
Keywords: pathophysiology methylmalonic; methylmalonic acidemia; acidemia; insights pathophysiology ... See more keywords
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
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DOI: 10.1007/s11011-022-00954-1
Abstract: Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychological deficits. "Isolated" MMA refers to the presence… read more here.
Keywords: methylmalonic acidemia; isolated methylmalonic; review neuropsychological; neuropsychological outcomes ... See more keywords
Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases
Sign Up to like & getrecommendations! Published in 2019 at "Advances in Therapy"
DOI: 10.1007/s12325-019-01149-4
Abstract: This study aims to improve our understanding of methylmalonic acidemia (MMA) complicated by homocystinuria disease by analyzing the clinical characteristics, treatment response and prognosis of three patients. Hyperhomocysteinemia and developmental retardation were present in all… read more here.
Keywords: arterial hypertension; one patient; pulmonary arterial; methylmalonic acidemia ... See more keywords
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.11.006
Abstract: Analysis of California newborn screening (NBS) data revealed a high prevalence of Hispanic infants testing positive for methylmalonic acidemia (MMA), a trend seen for both true- and false-positive cases. Here we show that Hispanic infants… read more here.
Keywords: mma; birth; acidemia mma; mma screening ... See more keywords
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-021-01143-8
Abstract: Purpose To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity. Methods A modified 1-13C-propionate breath test was administered to 57 methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16… read more here.
Keywords: 13c propionate; acidemia mma; propionate; methylmalonic acidemia ... See more keywords
Secondary acrodermatitis enteropathica‐like skin findings in a case of methylmalonic acidemia
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15051
Abstract: Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder caused by decreased activity of methylmalonyl‐CoA mutase or metabolic disturbance of its coenzyme cobalamin, cutaneous manifestations are rare clinical signs in this disease. Herein, we describe… read more here.
Keywords: acrodermatitis enteropathica; methylmalonic acidemia; enteropathica like;
Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant?
Sign Up to like & getrecommendations! Published in 2023 at "Indian Journal of Psychological Medicine"
DOI: 10.1177/02537176231159916
Abstract: The patient showed rapid improvement in her activities of daily living and communication. She regained the ability to feed independently and, following physiotherapy, could walk with aid. She maintained well for two months. However, after… read more here.
Keywords: rett syndrome; syndrome atypical; methylmalonic acidemia; acidemia ... See more keywords
Dandy-Walker malformation in methylmalonic acidemia: a rare case report
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DOI: 10.1186/s12887-021-02874-y
Abstract: Background Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations. Case presentation A 3-month-old female infant was admitted to the hospital for developmental retardation. Her prenatal and birth history was… read more here.
Keywords: walker malformation; dandy walker; acidemia; methylmalonic acidemia ... See more keywords
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations
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DOI: 10.3389/fgene.2018.00726
Abstract: Background: Methylmalonic acidemia (MMA) incidence was evaluated based on newborn screening in Xuzhou from November 2015 to December 2017, and the clinical, biochemical and molecular characteristics of patients with MMA harboring MMACHC and MUT mutations… read more here.
Keywords: mma; screening methylmalonic; acidemia chinese; methylmalonic acidemia ... See more keywords
Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.765637
Abstract: Isolated methylmalonic acidemia (MMA) is an inherited organic acid metabolic disorder in an autosomal recessive manner, caused by mutations in the methylmalonyl coenzyme A mutase gene, and the isolated MMA patients often suffer from multi-organ… read more here.
Keywords: isolated methylmalonic; itraq; methylmalonic acidemia; mma patients ... See more keywords
Ketamine and dexmedetomidine sedation for brain magnetic resonance imaging in methylmalonic acidemia
Sign Up to like & getrecommendations! Published in 2021 at "Indian Journal of Anaesthesia"
DOI: 10.4103/ija.ija_157_21
Abstract: Methylmalonic acidemia (MMA) occurs due to the deficiency of methylmalonyl-CoA mutase, which converts methylmalonyl coenzyme A (CoA) to succinyl-CoA, leading to the accumulation of methylmalonic acid.[1] There is also an associated deficiency of propionyl-CoA carboxylase… read more here.
Keywords: coa; methylmalonic acidemia; resonance imaging; magnetic resonance ... See more keywords