Results 31 to 40 of about 7,812 (191)

Late-onset methylmalonic acidemia and homocysteinemia.

Nutricion hospitalaria, 2021
Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease
Brox-Torrecilla,Noemi, Arhip,Loredana, Miguélez-González,María, Castellano-Gasch,Sandra, Contreras-Chicote,Ana, Rodríguez-Ferrero,María Luisa, Motilla-de la Cámara,Marta Luisa, Serrano-Moreno,Clara, Cuerda Compes,Cristina   +8 more
core   +4 more sources

Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions [PDF]

Cell & Bioscience
Background Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism caused by deficiency of the mitochondrial methylmalonyl-CoA mutase (MUT) enzyme.
Michele Costanzo, Armando Cevenini, Laxmikanth Kollipara, Marianna Caterino, Sabrina Bianco, Francesca Pirozzi, Gianluca Scerra, Massimo D’Agostino, Luigi Michele Pavone, Albert Sickmann, Margherita Ruoppolo   +10 more
doaj   +2 more sources

Effect of Bite-Sized Teaching Sessions on Mothers’ Care of Their Children with Methylmalonic Acidemia [PDF]

Egyptian Journal of Health Care, 2021
Background: Methylmalonic acidemia (MMA) is a metabolic disease in which proper dietary treatment may benefit pediatric patients' growth and development.
Rehab Hanie Elkazaz, Hoda Wahid Amer, Fatma Mohamed Mohamed   +2 more
doaj   +1 more source

Methylmalonic acidemia with emergency hypertension

Nefrología (English Edition), 2016
Bahareh Yaghmaei, Parastoo Rostami, Farnaz Najmi Varzaneh, Behdad Gharib, Behnaz Bazargani, Nima Rezaei   +5 more
doaj   +6 more sources

Dandy-Walker malformation in methylmalonic acidemia: a rare case report

BMC Pediatrics, 2021
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.
Jingwei Liu, Zhuohang Liu, Haibo Yan, Yumei Li   +3 more
doaj   +1 more source

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway

International Journal of Neonatal Screening, 2023
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine ...
Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen   +8 more
doaj   +1 more source

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?

Frontiers in Pediatrics, 2022
Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. Primary hospitals are often the first admission hospitals for these children but are limited by their experience and
Xiaoyu Cui, Xiaoyu Cui, Na Li, Hong Xue, Fang Zhang, Jianbo Shu, Jianbo Shu, Yang Liu   +7 more
doaj   +1 more source

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Molecular Genetics & Genomic Medicine, 2021
Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11
Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park   +5 more
doaj   +1 more source

Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Persistent pulmonary hypertension of the newborn manifesting with refractory and severe cyanosis is the consequence of high pulmonary vascular resistance causing extrapulmonary right-to-left shunt.
Fariba Hemmati, Hamide Barzegar
doaj   +1 more source

Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia [PDF]

, 2021
Mitochondria—the intracellular powerhouse in which nutrients are converted into energy in the form of ATP or heat—are highly dynamic, double-membraned organelles that harness a plethora of cellular functions that sustain energy metabolism and homeostasis.
Froese, D Sean; https://orcid.org/, Luciani, Alessandro; https://orcid.org/, Denley, Matthew C S, Sorrentino, Vincenzo, Govers, Larissa P   +4 more
core   +1 more source