Results 41 to 50 of about 8,189 (189)

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral

International Journal of Neonatal Screening
In the Netherlands, the newborn screening (NBS) program includes screening for propionic aciduria (PA) and methylmalonic aciduria (MMA). When initial screening reveals elevated C3 concentrations or abnormal ratios (C3/C2, C3/C16), a second-tier test ...
Nils W. F. Meijer, Hidde H. Huidekoper, Klaas Koop, Sabine A. Fuchs, M. Rebecca Heiner Fokkema, Charlotte M. A. Lubout, Andrea B. Haijer-Schreuder, Wouter F. Visser, Rendelien K. Verschoof-Puite, Eugènie Dekkers, Annet M. Bosch, Rose E. Maase, Monique G. M. de Sain-van der Velden   +12 more
doaj   +1 more source

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Frontiers in Genetics, 2022
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li   +6 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Allosteric Regulation of Oligomerization by a B₁₂ Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. [PDF]

Cell Chem Biol, 2019
Allosteric regulation of methylmalonyl-CoA mutase (MCM) by the G-protein chaperone CblA is transduced via three "switch" elements that gate the movement of the B12 cofactor to and from MCM.
Ruetz M, Campanello GC, McDevitt L, Yokom AL, Yadav PK, Watkins D, Rosenblatt DS, Ohi MD, Southworth DR, Banerjee R.   +9 more
europepmc   +2 more sources

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Orphanet Journal of Rare Diseases, 2008
Background Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1 ...
Guffon Nathalie, Vianey-Saban Christine, Acquaviva Cécile, Fouilhoux Alain, Forest Isabelle, Levrat Virginie   +5 more
doaj   +1 more source

Advances in the Protective Effects and Mechanisms of β‐Aminoisobutyric Acid in Maintaining Multi‐Organ Homeostasis

Medicine Bulletin, Volume 2, Issue 4, Page 476-489, September 2026.
ABSTRACT β‐Aminoisobutyric acid (BAIBA) is an exercise‐responsive myokine/metabolite released by skeletal muscle and has attracted increasing interest as a potential exercise mimetic and therapeutic candidate in preclinical research. BAIBA acts locally in skeletal muscle and can also reach distal organs through the circulation, contributing to the ...
Hao‐Zhe Wang, Wen‐Bi He, Fei‐Peng Chen, Jiong‐Xing Huang, Lin Zhu, Xiao‐Guang Liu   +5 more
wiley   +1 more source

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning [PDF]

, 2022
Methylmalonic aciduria cblB type (MMA cblB type, MMAB OMIM #251110), caused by a deficiency in the enzyme ATP:cob(I)alamin adenosyltransferase (ATR, E.C_2. 5.1.17), is a severe metabolic disorder with a poor prognosis despite treatment.
Ugarte, M., Morato, E., Rodríguez Pombo, Pilar, Vilas, A., Richard Rodríguez, Eva María, Ruiz Sala, P., Briso Montiano, A., Ruiz Desviat, Lourdes, Pérez González, María Belén, Pérez, Belén, E. Morato, Á. Briso-Montiano, Briso-Montiano, Álvaro, A. Vilas, Desviat, L R, E. Richard, Rodríguez-Pombo, P, Pérez, B, Morato, Esperanza, B. Pérez, Richard, Eva, Briso-Montiano, Á, P. Ruiz-Sala, P. Rodríguez-Pombo, Ruiz-Sala, P, Vilas, A, M. Ugarte, Vilas, Alicia, Desviat, Lourdes Ruiz, Ugarte, M, Ruiz-Sala, Pedro, L.R. Desviat, Ugarte, Magdalena, Richard, E, Rodríguez-Pombo, Pilar, Morato, E   +35 more
core   +1 more source

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures

Orphanet Journal of Rare Diseases, 2013
Background Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids.
Jafari Paris, Braissant Olivier, Zavadakova Petra, Henry Hugues, Bonafé Luisa, Ballhausen Diana   +5 more
doaj   +1 more source

Evaluation of a Targeted LC–MS/MS Assay for Clinical Quantification of Urinary Organic Acids

Journal of Mass Spectrometry, Volume 61, Issue 8, August 2026.
ABSTRACT Gas chromatography–mass spectrometry (GC–MS) is the reference method for urine organic acid analysis but requires complex sample preparation and derivatization, limiting routine clinical use. We developed and validated a targeted Liquid chromatography–tandem mass spectrometry (LC–MS/MS) method for quantifying urinary organic acids relevant to ...
Earnest J. P. Daniel, Emily Garnett, Deepthi Rajapakshe, Sridevi Devaraj   +3 more
wiley   +1 more source