Results 1 to 10 of about 3,232 (144)

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China [PDF]

Human Genomics
Background Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type).
Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Yu Wang, Ting Chen, Feng Xu, Xuefan Gu, Lianshu Han   +18 more
doaj   +4 more sources

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

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   +2 more sources

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort. [PDF]

J Inherit Metab Dis
ABSTRACT Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single‐center study was conducted at Necker Hospital (France), including MMA patients who underwent ...
Vissac A, Sarda E, Roux CJ, Schiff M, Bérat CM, Bouchereau J, Arnoux JB, de Puyraimond C, Gaschignard M, Mekdade T, Cucinotta U, Mayer C, Barbier V, Benoist JF, Oualha M, Capito C, Chardot C, Dao M, Servais A, Francoz C, Dehoux L, Lacaille F, Desguerre I, Boddaert N, de Lonlay P, Brassier A.   +25 more
europepmc   +2 more sources

Methylmalonic Acidemia and Extrapyramidal Disease

Pediatric Neurology Briefs, 1988
Four children, 4-13 yrs old, with methylmalonic acidemia who developed acute dystonia after metabolic decompensation with ketoacidosis are reported from the Department of Pediatrics, University of Pennsylvania School of Medicine, and the Children’s ...
J Gordon Millichap
doaj   +3 more sources

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature [PDF]

BMC Pediatrics
Background Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira   +9 more
doaj   +2 more sources

Methylmalonic Acidemia with Novel MUT Gene Mutations [PDF]

Case Reports in Genetics, 2017
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA).
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh   +3 more
doaj   +2 more sources

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

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   +2 more sources

Methylmalonic acidemia: Neurodevelopment and neuroimaging [PDF]

Frontiers in Neuroscience, 2023
Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important.
Tao Chen, Yian Gao, Shengdong Zhang, Yuanyuan Wang, Chaofan Sui, Linfeng Yang   +5 more
doaj   +2 more sources

Animal models of methylmalonic acidemia: insights and challenges [PDF]

Orphanet Journal of Rare Diseases
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by disruptions in the metabolism of methylmalonic acid, resulting in severe neurological and systemic complications.
Shan Shan, Min Liu, Yue Ma, Meng Sun, Yue Wang, Hui Zou   +5 more
doaj   +2 more sources

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia [PDF]

Journal of Medical Case Reports
Background Methylmalonic acidemia is a very rare genetic metabolic disease. Patients with isolated methylmalonic acidemia typically present with acute alterations of consciousness, failure to thrive, anorexia, vomiting, respiratory distress, and muscular
Zahra Hakimzadeh, Abolfazl Gilani, Parsa Yousefichaijan, Roham Sarmadian   +3 more
doaj   +2 more sources