Results 51 to 60 of about 8,189 (189)

Early Onset Methylmalonic Aciduria and Homocystinuria cblC Type With Demyelinating Neuropathy [PDF]

, 2020
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B 12 (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotypephenotype correlation.
MD Carlo Fusco, MD Valentina Ucchino, MD Daniele Frattini, PhD Barbara Tavazzi, MD Elvio Della Giustina   +4 more
core  

Splenic lymphoid hyperplasia in a cat presenting with hyperammonaemia, hypercalcaemia and hypercobalaminaemia

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract A 5‐year‐old, male neutered, Bengal‐cross cat presented with progressive neurological signs (ataxia and torticollis). Initial haematology, serum biochemistry and electrolytes (including calcium) were unremarkable; however, ammonia was markedly elevated.
Kerry E. Rolph, Tim Scase, Owen Davies
wiley   +1 more source

Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

, 2014
Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, resulting in high morbidity and mortality. Positive results from combined liver/kidney transplantation suggest, however, that metabolic sink therapy ...
Wong, E., Peters, H., Fletcher, J., Anson, D., McIntyre, C., Ranieri, E.   +5 more
core   +1 more source

Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency

The Turkish Journal of Pediatrics, 2022
Background. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensation ...
Havva Yazıcı, Ebru Canda, Hüseyin Onay, Sema Kalkan Uçar, Sara Habif, Mahmut Çoker   +5 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1518-1523, July 2026.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BMC Medical Genetics, 2020
Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen   +9 more
doaj   +1 more source

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Muddassir Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa   +8 more
wiley   +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

Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria

Journal of Pediatric Neurosciences, 2015
A, 11-year-old male, with delayed milestones after the age of 6 months with recurrent myoclonus and generalized tonic-clonic seizures had clinical worsening after institution of valproate, was detected to have elevated serum lactate level and marked ...
Aditya Murgai, Aviraj Deshmukh, Vinod Puri, Neera Chaudhry, Seema Kapoor   +4 more
doaj   +1 more source