Results 11 to 20 of about 25,995 (351)

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. [PDF]

Crit Rev Oncog, 2013
Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE.   +3 more
europepmc   +2 more sources

A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation

Biomedicines, 2021
Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular pathways such as oxidative phosphorylation, lipoic acid synthesis, and iron metabolism.
Elise Lebigot, Manuel Schiff, Marie-Pierre Golinelli-Cohen   +2 more
doaj   +1 more source

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

Nature Communications, 2022
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff   +15 more
doaj   +1 more source

Isovaleric Acidemia as a Rare Cause for Bad Obstetric History [PDF]

Journal of Clinical and Diagnostic Research, 2021
Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels ...
Sailatha Ramanujam, Shery Angel, Anuradha Coimbatore Ramachandran, Anu Bhargavi Basker   +3 more
doaj   +1 more source

Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

Clinical Pathology, 2022
Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia
Anasufiza Habib, Norashareena Mohamed Shakrin   +1 more
doaj   +1 more source

A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency [PDF]

Romanian Journal of Pediatrics, 2022
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness.
Sebastian Romeo Pintilie, Adriana Fodor, Marius Bembea, Codruta Diana Petchesi, Simona Grad, Laura Damian, Romana Vulturar   +6 more
doaj   +1 more source

Methylmalonic Acidemia- A Rare Inborn Error of Metabolism [PDF]

Indian Journal of Neonatal Medicine and Research, 2016
The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age ...
Charusheela Sujit Korday, Rahul Ramnath Holkar, Shruti Sudhir Jadhav, Maaz Ahmed, Sushma Malik   +4 more
doaj   +1 more source

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Nature Communications, 2022
Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated mouse
Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché   +16 more
doaj   +1 more source

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

JIMD Reports, 2021
Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis ...
José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, Anderson R. B. Paiva, Leandro T. Lucato, Fernando Kok   +9 more
doaj   +1 more source

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Journal of Inherited Metabolic Disease, 2010
We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild
A. Bosch, N. G. Abeling, L. Ijlst, Hennie Knoester, W. Pol, A. Stroomer, R. Wanders, Gepke Visser, F. Wijburg, Marinus Duran, H. Waterham   +10 more
semanticscholar   +1 more source