Results 61 to 70 of about 8,189 (189)

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

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans

FEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe   +4 more
doaj   +1 more source

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico‐Pathological Study of 24 Livers

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT In methylmalonic (MMA) and propionic acidemias (PA), liver or liver‐kidney transplantation (Tx) is indicated for metabolic decompensations, kidney failure (MMA), and to improve quality of life. Liver cancer was reported in five patients with MMA.
Léa Zloty, Mouna Aoun, Carmen Capito, Anaïs Brassier, Guillaume Morcrette, Ugo Cucinotta, Laurène Dehoux, Claire Mayer, Jean‐Paul Duong Van Huynh, Apolline Imbard, Jean‐François Benoist, Christophe Chardot, Manuel Schiff, Pascale de Lonlay, Monique Fabre, Florence Lacaille   +15 more
wiley   +1 more source

Antioxidant System Disturbances, Bioenergetic Disruption, and Glial Reactivity Induced by Methylmalonic Acid in the Developing Rat Brain

Neuroglia
Background: Elevated levels of methylmalonic acid (MMA) are observed in the bodily fluids and tissues of patients with methylmalonic aciduria, a metabolic disorder characterized by manifestations such as vomiting, lethargy, muscle weakness, seizures, and
Cristiano Antonio Dalpizolo, Josyane de Andrade Silveira, Manuela Bianchin Marcuzzo, Vitor Gayger-Dias, Vanessa-Fernanda Da Silva, Camila Vieira Pinheiro, Bruno Pereira dos Santos, Tiago Franco de Oliveira, Carlos-Alberto Gonçalves, Guilhian Leipnitz   +9 more
doaj   +1 more source

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

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model.

, 2012
Methylmalonic aciduria is a rare disorder caused by an inborn error of organic acid metabolism. Current treatment options are limited and generally focus on disease management.
Pitt, James J, Pennell, Samuel D, Wood, Leonie R, Allen, Katrina J, Peters, Heidi L, Buck, Nicole E   +5 more
core   +1 more source

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment

The Turkish Journal of Pediatrics, 2019
Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively ...
Çiğdem Seher Kasapkara, Ebru Yılmaz-Keskin, Ferda Özbay-Hoşnut, Meltem Akçaboy, Emine Polat, Asburçe Olgaç, Pelin Zorlu   +6 more
doaj   +1 more source

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro‐ophthalmological and adipose tissue accumulation of the dietary‐derived phytanic acid (PA).
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P. Leroy, Omar Mahroo, Rachel M. Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G. Hacia, Ronald J. Wanders, Anthony S. Wierzbicki   +15 more
wiley   +1 more source