Results 41 to 50 of about 2,810 (170)

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia

Journal of Medical Case Reports
Background Methylmalonic acidemia is a very rare genetic metabolic disease. Patients with isolated methylmalonic acidemia typically present with acute alterations of consciousness, failure to thrive, anorexia, vomiting, respiratory distress, and muscular
Zahra Hakimzadeh, Abolfazl Gilani, Parsa Yousefichaijan, Roham Sarmadian   +3 more
doaj   +1 more source

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

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

International Journal of Neonatal Screening, 2022
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held, Emily Singh, Jessica Scott Schwoerer   +2 more
doaj   +1 more source

Hypocortisolaemia with gastrointestinal haemorrhage in a young cat

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐month‐old, female, spayed domestic shorthair presented with a 1‐week history of lethargy and anorexia. On admission, the cat had severe hypoglycaemia, and hypovolaemic and distributive shock were suspected. Mucosal defects identified by ultrasonography were suggestive of gastrointestinal ulceration.
Victoria J. Skinner, Bronwyn Zimmerman, Ivayla D. Yozova   +2 more
wiley   +1 more source

Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

Journal of Rare Diseases
Purpose Methylmalonic acidemia is caused by impaired metabolism of certain amino acids, odd-chain fatty acids and cholesterol side chains. One of the most severe forms of methylmalonic acidemia is caused by complete (mut0) or partial (mut-) deficiency of
Tamás Zelei, Kristóf Gyöngyösi, Máté Pálfi, Adina Turcu-Stiolica, Bertalan Németh, Zoltán Vokó, Vanja Sikirica, Patrick Burkett, Geetanjoli Banerjee   +8 more
doaj   +1 more source

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 Acidemia and Extrapyramidal Disease

Pediatric Neurology Briefs, 1988
Four children, 4-13 yrs old, with methylmalonic acidemia who developed acute dystonia after metabolic decompensation with ketoacidosis are reported from the Department of Pediatrics, University of Pennsylvania School of Medicine, and the Children’s ...
J Gordon Millichap
doaj   +1 more source

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

mRNA Therapeutics Beyond Infectious Diseases: Expanding Therapeutic Applications and Future Perspectives

Immunity, Inflammation and Disease, Volume 14, Issue 9, September 2026.
Messenger RNA therapeutics are rapidly expanding beyond infectious diseases into oncology, autoimmune disorders, protein replacement therapy, cardiovascular and neurological diseases, and regenerative medicine. Advances in RNA engineering and targeted delivery are driving the development of safe, programmable, and precision therapeutics for diverse ...
Gedion Mengistu Dejen
wiley   +1 more source

Imerslund‐Gräsbeck Syndrome Caused by Compound Heterozygous Mutations in the AMN Gene: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT The 7‐year‐old girl had recurrent anemia for 6 years, showing large cell anemia. The parent‐derived AMN double heterozygous mutation was detected to confirm the diagnosis of IGS. The hemogram was normal after intramuscular injection of vitamin B12, and there were no other complications.
Cheng Chen, Yijia Min, Xiaoping Ye, Yu Ma, Huiqing Ge, Jingying Chou, Xiaoling Yang, Yingying Cui, Xiaochun Zhang   +8 more
wiley   +1 more source