Results 21 to 30 of about 7,812 (191)

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   +2 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

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

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   +3 more sources

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   +2 more sources

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

International Journal of Neonatal Screening, 2022
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Jessica Scott Schwoerer, Patrice Held, Emily Singh   +2 more
exaly   +3 more sources

ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA [PDF]

Педиатрическая фармакология, 2014
The article is dedicated to a pressing issue of pediatrics — diagnosis and treatment of an autosomal-recessive disease from the group of organic acidemias — methylmalonic acidemia.
S. I. Polyakova, E. A. Roslavtseva, R. F. Tepaev, A. O. Anushenko   +3 more
doaj   +2 more sources

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

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   +3 more sources

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology
Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to
Wei Zhao, Yingli Zhang, Hongliang Zheng
doaj   +2 more sources

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report [PDF]

BMC Neurology
Background Liver-kidney transplantation in methylmalonic acidemia (MMA) improves metabolic control but does not eliminate neurological risk. Peripheral neuropathy is increasingly recognized in transplanted patients, yet its pathophysiology and ...
Mariapia Griffo, Francesca Magri, Francesca Furlan, Elisabetta Bernardi, Francesca Menni, Francesco Tagliaferri, Sara Testa, Dario Ronchi, Sara Petrillo, Fiorella Piemonte, Delia Gagliardi, Mosè Parisi, Samuel Padelli, Daniele Velardo, Nicola Molitierno, Stefania Corti, Giacomo Pietro Comi   +16 more
doaj   +2 more sources

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   +2 more sources