Results 31 to 40 of about 2,810 (170)

Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis

Frontiers in Nutrition, 2023
BackgroundThe most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that
Yu-Peng Liu, Yu-Peng Liu, Ru-Xuan He, Zhe-Hui Chen, Lu-Lu Kang, Jin-Qing Song, Yi Liu, Chun-Yan Shi, Jun-Ya Chen, Hui Dong, Yao Zhang, Meng-Qiu Li, Ying Jin, Jiong Qin, Yan-Ling Yang   +14 more
doaj   +1 more source

Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet

Frontiers in Pediatrics, 2022
Methylmalonic acidemia is a rare autosomal recessive metabolic disease. However, because of the atypical clinical symptoms, the type of late-onset methylmalonic academia is often misdiagnosed.
Bei Xu, Lihong Zhang, Qiang Chen, Yajuan Wang, Yahong Peng, Hui Tang   +5 more
doaj   +1 more source

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Molecular Genetics and Metabolism Reports, 2018
Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar   +3 more
doaj   +1 more source

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

Mitochondrial Distress in Methylmalonic Acidemia: Novel Pathogenic Insights and Therapeutic Perspectives

Cells, 2022
Mitochondria are highly dynamic, double-membrane-enclosed organelles that sustain cellular metabolism and, hence, cellular, and organismal homeostasis.
Svenja Aline Keller, Alessandro Luciani
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Anesthetic management of a pediatric patient with methylmalonic acidemia combined with hyperhomocysteinemia: A case report

Clinical Case Reports, 2023
Key Clinical Message Methylmalonic acidemia (MMA) combined with hyperhomocysteinemia is an autosomal recessive genetic disease which can lead to metabolic acidosis, elevated lactate, and high blood ammonia level. This anesthetic management was mainly how
Yunting Pang, Fanqing Meng, Yaqiu Guo, Feng Zhou   +3 more
doaj   +1 more source

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Patient iPSC‐derived astrocytes reveal impaired homeostasis and reactive‐like features in propionic acidemia

The Journal of Pathology, EarlyView.
Abstract Propionic acidemia (PA) is a neurometabolic disorder caused by propionyl‐CoA carboxylase deficiency with frequent neurological involvement, yet cell‐type‐specific mechanisms remain poorly defined. We established human induced pluripotent stem cell (iPSC)‐derived astrocytes (iAs) from patients harboring PCCA or PCCB mutations and investigated ...
Irene González‐Garnacho, Mar Álvarez, Francisco Zafra, Pilar Rodríguez‐Pombo, Lourdes R Desviat, Eva Richard   +5 more
wiley   +1 more source

Deep brain stimulation outcomes and management of childhood‐onset dystonia and associated hyperkinetic movements disorders

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey, Laura Ainaga, Eva Maria Navarrete Muñoz, Verity McClelland, Keyoumars Ashkan, Richard Selway, Harutomo Hasegawa, Daniel E Lumsden, Jean‐Pierre Lin, Hortensia Gimeno   +9 more
wiley   +1 more source