Results 41 to 50 of about 12,610 (204)

CLINICAL CASE OF METHYLMALONIC ACIDEMIA

Байкальский медицинский журнал, 2023
The paper describes a clinical case of methylmalonic acidemia in a newborn premature baby with a aggravated genealogical and obstetric history. The problems of diagnosing aminoacidopathy as a large heterogeneous group of hereditary diseases, which, as a ...
Elena Anatolyevna Tkachuk, Darya Mikhailovna Barykova, Yuliya Sergeevna Livadarova, Igor Zhanovich Seminsky, Tatyana Alexandrovna Astakhova, Elena Gennadievna Osipova, Yuliya Viktorovna Mikhelsone, Tatyana Yuryevna Dorofeeva, Nikolay Vasilyevich Syrkin, Maria Igorevna Krasnova, Anna Viktorovna Rudakova, Daria Yuryevna Alexandrova   +11 more
doaj   +1 more source

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN. [PDF]

Kidney Int Rep
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, Kölker S, Oh J, Ariceta G, Stojanovic J, Hörster F, Strologo D, Spada M, Schiff M, Dionisi-Vici C.   +14 more
europepmc   +2 more sources

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

Methylmalonic acidemia in prenatal diagnosis

Clinical and Experimental Obstetrics & Gynecology, 2020
Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine.
B.F. Zhou, C.X. Duan, D.L. Tang
doaj   +1 more source

Hydrocephalus Caused by Methylmalonic Acidemia: Clinical Characteristics, Optimal Timing of Surgical Intervention and Health-Related Quality of Life. [PDF]

Neurosurgery
Zhou F, Huo Y, Li Y, Shen L, Liu L, Yao H, Zhang R, Hou X.   +7 more
europepmc   +2 more sources

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

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

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

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

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