Results 41 to 50 of about 2,693,578 (146)

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect. [PDF]

Mol Genet Metab Rep
Isolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. Five iMMA-responsible genes have been described to date: MMUT (MIM *609058), MMAA (MIM *607481, MMAB (MIM *607568 ...
Fernández-Lainez C, Vela-Amieva M, Reyna-Fabián M, Fernández-Hernández L, Guillén-López S, López-Mejía L, Alcántara-Ortigoza MÁ, González-Del Angel A, Carrillo-Nieto RI, Ortega-Valdez E, Rojas-Maruri M, Ridaura-Sanz C.   +11 more
europepmc   +2 more sources

Immunohistochemistry analysis of Ki67 in 10-week-old mice.

, 2022
Heterozygous (Mmut+/-) and MMA (Mmut-/-) mice were fed standard chow (21% protein content). Animals were killed at 7–10 weeks of age, and liver tissues were subjected to immunohistochemistry analysis for Ki67.
Noel Walsh (13833794), Lauren Drouin (13833800), Kyle Chiang (13833803), Chih-Wei Ko (2022751), Shreya Amarwani (13833797), Jenisha Vora (13833785), Carmen Wu (13833791), Nikhil Ramesh (13833782), Elizabeth McCarthy (819837), Xiaohan Zhang (2291644), Jing Liao (193197), B. Nelson Chau (13833806), Susana Gordo (13833779), Dylan Frank (13833788), Matthias Hebben (3271188), Amy Bastille (13833776), Shengwen Zhang (41536), Qiang Xiong (182400)   +17 more
core   +1 more source

Update on Viral Gene Therapy Clinical Trials for Retinal Diseases [PDF]

, 2022
In 2001, the first large animal was successfully treated with a gene therapy that restored its vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness called Leber's congenital amaurosis type 2.
Cheng, Shun-Yun, Punzo, Claudio
core   +1 more source

Fatal Case Report of Methylmalonic Acidemia: Reflections on Organic Acidemias in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Methylmalonic acidemia (MMA) is a rare hereditary metabolic disorder caused by defects in the methylmalonyl-CoA mutase pathway, leading to toxic metabolite accumulation and severe multi-organ complications.
Ana María Zarante Bahamon, Juan Sebastián Rincón Redondo, Sandra Navarro Marroquin, Dairo Jesús Cera Cabarcas, Juan Carlos Prieto Rivera   +4 more
doaj   +1 more source

Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Combined malonic and methylmalonic aciduria (CMAMMA; OMIM 614265) is a rare disorder of mitochondrial fatty acid synthesis caused by pathogenic variants in the ACSF3 gene, which encodes malonyl‐CoA synthetase. The clinical presentation is highly heterogeneous and may include seizures, memory impairment, psychiatric manifestations, and ...
Khaled Alatibi, Martin J. Hug, Sara Tucci   +2 more
wiley   +1 more source

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

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1518-1523, July 2026.
ABSTRACT 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 the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BMC Medical Genetics, 2020
Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen   +9 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China [PDF]

PeerJ
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021.
Jingying Zhu, Li Han, Pingjingwen Yang, Ziyi Feng, Shuyuan Xue   +4 more
doaj   +2 more sources

Impaired Fat Metabolism During Exercise in Patients With Methylmalonic and Propionic Acidemia

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic diseases causing deficiency in the catabolism of amino acids, cholesterol, and odd‐chain fatty acids. Both patient groups report exercise intolerance and fatigue.
S. Myrup, A. Høj, M. M. Naume, N. Løkken, G. Van Hall, A. Lund, M. Duno, J. Vissing, M. C. Ørngreen   +8 more
wiley   +1 more source