Results 71 to 80 of about 9,393 (183)

The Challenge of Determining the Etiology of Encephalopathy in an Elderly Patient

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Encephalopathy is a heterogeneous clinical syndrome with numerous neurological and systemic etiologies. We report the case of a 67‐year‐old man, a chronic ethanol consumer, admitted with a one‐week history of confusional syndrome. Initial laboratory tests revealed severe hypercalcemia, acute kidney injury, mild anemia, and hyperproteinemia ...
Vlad Alexandru Ionescu, Gina Gheorghe, Roxana‐Manuela Vasile, Claudia‐Lucia Ionescu, Mihaela Bazac, Viorica Ileana Bumbea, Alina Valentina Dobrota, Ioana‐Alexandra Baban, Alexandru Barbu, Camelia Cristina Diaconu   +9 more
wiley   +1 more source

FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia

Molecular Genetics and Metabolism Reports
Introduction: FBXL4- related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is caused by pathogenic variants in the FBXL4 gene, resulting in mitochondrial dysfunction and multisystem involvement.
Ayça Burcu Kahraman, Halil Çelik, Zafer Bagci, Abdullah Sezer, Mustafa Kılıç   +4 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +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

Idiopathic hyperammonemia after chemotherapy with vinorelbine, topotecan, and cisplatin in a patient with acute lymphocytic leukemia

Hematology/Oncology and Stem Cell Therapy, 2010
Idiopathic hyperammonemia (IHA) had been reported in some patients with hematological malignancy after receiving intensive chemotherapy, following bone marrow transplantation, or after using 5-fluorouuracil for some solid tumors.
Yu-Hsien Chen, Tzeon-Jye Chiou, Yen-Ning Hsu, Chun-Yu Liu   +3 more
doaj   +1 more source

Continuous renal replacement therapy for severe transient hyperammonemia in a preterm infant weighing 1120 g: A case report

Journal of International Medical Research
Transient hyperammonemia of the newborn is a rare form of hyperammonemia with an unclear, likely nongenetic etiology, primarily affecting larger preterm infants.
Jinglin Xu, Jiahuai Liu, Hongyuan Yang, Weifeng Zhang, Dongmei Chen, Zhiyong Liu   +5 more
doaj   +1 more source

Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade, Claire‐Marine Bérat, Manuel Schiff, Margaux Gaschignard, Juliette Bouchereau, Jean‐Baptiste Arnoux, Claire Francoz, Aude Servais, Myriam Dao, Vickie Lacroix, Julien Maquet, Apolline Imbard, Edouard Le Guillou, Clément Pontoizeau, Jean‐François Benoist, Mehdi Oualha, Marion Grimaud, Charles de Marcellus, Laurent Sabbah, Claire Mayer, Christophe Chardot, Carmen Capito, Diala Khraiche, Florence Lacaille, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia [PDF]

, 2018
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer than 100 patients.
Katherine Taylor, Wild, Rebecca D, Ganetzky, Marc, Yudkoff, Lynne, Ierardi-Curto   +3 more
openaire   +2 more sources

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source