Results 21 to 30 of about 2,810 (170)

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

Nature Communications, 2020
Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. Here the authors use cell and animal models to show that MMUT mutations lead to defective mitophagy and stress in kidney cells, contributing to the ...
Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst   +19 more
doaj   +1 more source

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

International Journal of Neonatal Screening, 2021
Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway.
Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada   +12 more
doaj   +1 more source

Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature

Children, 2021
Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome.
Alessia Marcellino, Cristiana Alessia Guido, Silvia Bloise, Saverio Mallardo, Sara Isoldi, Emanuela Del Giudice, Anna Dilillo, Vanessa Martucci, Mariateresa Sanseviero, Donatella Iorfida, Alberto Spalice, Riccardo Lubrano   +11 more
doaj   +1 more source

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

Frontiers in Neurology, 2022
Methylmalonic acidemia is a severe heterogeneous disorder of methylmalonate and cobalamin (Cbl; vitamin B12) metabolism with poor prognosis. Around 90% of reported patients with methylmalonic acidemia (MMA) are severe infantile early onset, while cases ...
Shengnan Wang, Xu Wang, Jianxin Xi, Wenzhuo Yang, Mingqin Zhu   +4 more
doaj   +1 more source

Optic neuropathy in methylmalonic acidemia and propionic acidemia [PDF]

British Journal of Ophthalmology, 2015
Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series ...
Martinez-Alvarez, Lidia, Jameson, E., Parry, Neil, Lloyd, Chris, Ashworth, Jane   +4 more
openaire   +2 more sources

Methylmalonic Acidemia

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2016
Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive.
Shahid, Mahmud, Syed, Awais Ul Hassan Shah, Salman, Ali   +2 more
openaire   +3 more sources

Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC)

Egyptian Journal of Medical Human Genetics, 2021
Background Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes of cobalamin defects cblC, cblD, cblF, and cblJ that are responsible for combined ...
Nadia Waheed, Zafar Fayyaz, Ahmad Imran
doaj   +1 more source

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Orphanet Journal of Rare Diseases, 2021
Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.
Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han   +23 more
doaj   +1 more source

Enamel defects and salivary methylmalonate in methylmalonic acidemia [PDF]

Oral Diseases, 2009
Introduction and objective:  To characterize enamel defects in patients with methylmalonic acidemia (MMA) and cobalamin (cbl) metabolic disorders and to examine salivary methylmalonate levels in MMA.Subjects and methods:  Teeth from patients (n = 32) were evaluated for enamel defects and compared with age‐ and gender‐matched controls (n = 55 ...
C W, Bassim, J T, Wright, J P, Guadagnini, R, Muralidharan, J, Sloan, D L, Domingo, C P, Venditti, T C, Hart   +7 more
openaire   +2 more sources

Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient

Genetics Research, 2022
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder mainly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MMUT) and leads to the reduced activity of MCM.
Siyu Dai, Yanting Yang, Yaqian Li, Hongqian Liu   +3 more
doaj   +1 more source