Results 71 to 80 of about 2,693,074 (200)

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency

Haematologica, 2005
Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine.
CD Campbell, J Ganesh, C Ficicioglu
doaj  

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, Volume 6, Issue 5, October 2026.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Methylmalonic acid values in healthy Dutch children

European Journal of Nutrition, 2007
Plasma methylmalonic acid (MMA) is a specific marker for functional cobalamin deficiency. This deficiency can give rise to non-specific but serious symptoms in childhood such as developmental delay, convulsions and failure to thrive and may even lead to irreversible neurological damage.To analyse plasma MMA concentrations in Dutch children and to ...
Hogeveen, M., Beijnum, I.M. van, Rooij, A. van, Kluijtmans, L.A.J., Heijer, M. den, Blom, H.J.   +5 more
openaire   +4 more sources

Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aim Maple Syrup Urine Disease (MSUD) is a metabolic disorder affecting branched‐chain amino acid metabolism. While neurological symptoms are well‐characterized, cutaneous manifestations such as acrodermatitis dysmetabolica (AD) caused by isoleucine deficiency remain underrecognized.
Bahareh Abtahi‐naeini, Motahar Heidari‐Beni, Noushin Rostampour, Naeimeh Davoudi, Sarah Seyedyousefi   +4 more
wiley   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, Volume 41, Issue 10, Page 2712-2722, October 2026.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

Urinary Methylmalonic Acid as an Indicator of Early Vitamin B12 Deficiency and Its Role in Polyneuropathy in Type 2 Diabetes

, 2020
The rising incidence of diabetes and its negative impact on quality of life highlights the urgent need to develop biomarkers of early nerve damage. Measurement of total vitamin B12 has some limitations.
Yuan-Tao Liu, Xiang-Hua Zhuang, Shi-Hong Chen, Ai-Li Sun, Xiao-Bo Li, Yi-Hong Ni, Xin-Hua Liu   +6 more
core  

Plasma cobalamin, folate, methylmalonic acid and total homocysteine concentrations in different age groups according to breastfeeding status of the study children in Bhaktapur, Nepal.

, 2014
Plasma cobalamin, folate, methylmalonic acid and total homocysteine concentrations in different age groups according to breastfeeding status of the study children in Bhaktapur, Nepal.
Ram K. Chandyo (323672), Halvor Sommerfelt (214581), Helga Refsum (116099), Manjeswori Ulak (323671), Pushpa R. Sharma (323670), Ramesh K. Adhikari (323673), Tor A. Strand (323669)   +6 more
core   +1 more source

Serum Vitamin B12, Homocysteine and Methylmalonic Acid Levels in Patients With Parenchymal Neuro-Behçet's Syndrome.

, 2017
This study aims to investigate the role of serum levels of vitamin B12 (VitB12), homocysteine (Hcy), and methylmalonic acid (MMA) in the development of parenchymal neuro-Behçet's syndrome (NBS) and to compare them with healthy controls and Behçet's ...
Göker, B., Mercan, R., Tufan, Abdurrahman, Küçükşahin, O., Elbeg, Ş., Küçük, H., Haznedaroğlu, Seminur, Tufan, A., Elbeg, Şehri, Küçükşahin, Orhan, Haznedaroğlu, S., Bitik, B., Bitik, Berivan, Mercan, Rıdvan, Öztürk, M.A., Göker, Berna, Küçük, Hamit, Öztürk, Mehmet Akif, Mercan, Ridvan, Bitik, Berivan and Tufan, Abdurrahman and Elbeg, Sehri and Mercan, Ridvan and Kucuk, Hamit and Kucuksahin, Orhan and Ozturk, Mehmet Akif and Haznedaroglu, Seminur and Goker, Berna, Berivan Bitik   +20 more
core   +1 more source

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia

Orphanet Journal of Rare Diseases
Background Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA ...
I.-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, Cheng-Yu Lee, Sheng-Bin Liang, Yann-Jang Chen   +5 more
doaj   +1 more source

Methylmalonic acidemia with homocystinemia causing subacute combined degeneration of the spinal cord : a case report [PDF]

Linchuang erke zazhi
Methylmalonic acidemia (MMA) is a relatively common inherited organic acid disorder. However, MMA-associated subacute combined degeneration of the spinal cord (SCD) in pediatric patients remains exceedingly rare, with insidious onset and high risk of ...
CHEN Liuwang, LIU Pan, XI Rongjuan, ZHANG Xianxia, ZHANG Yi, WEI Xingjiao, SU Min, YANG Yonghong, FU Yangxi
doaj   +1 more source