Results 11 to 20 of about 4,590,707 (207)

Out-of-pocket health expenditures in patients living with ınborn errors of metabolism

Orphanet Journal of Rare Diseases, 2023
Aim The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes.
Mehmet Gündüz, Yasemin Yüksel Güdek, Çiğdem Seher Kasapkara   +2 more
doaj   +2 more sources

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease

Metabolites
Hepatic mitochondria play critical roles in sustaining systemic nutrient balance, nitrogen detoxification, and cellular bioenergetics. These functions depend on tightly regulated mitochondrial processes, including amino acid catabolism, ammonia clearance
Ranya Erdal, Kıvanç Birsoy, Gokhan Unlu   +2 more
doaj   +2 more sources

Amino acid metabolism disorders and PAH gene mutations in Southeastern Anatolia Region [PDF]

, 2021
Objectives: Inborn errors of metabolism are generally autosomal recessive inherited disorders. The incidence and genetic features of neonatal metabolic disorders vary significantly by regions and populations.
GÖNEL, ATAMAN, KOYUNCU, İSMAİL, Oz, Ozlem, Akbulut, Emis Deniz, Karadag, Mujgan Ercan, Ercan Karadağ, Müjgan, Emiş Deniz Akbulut, Özlem Öz, Ataman Gönel, İsmail Koyuncu, Müjgan Ercan Karadağ   +10 more
core   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Inborn errors of enzymes in glutamate metabolism [PDF]

, 2020
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Verhoeven-Duif, Nanda, Peter M. van Hasselt, Jans, Judith Jm, Lynne Rumping, Vringer, Esmee, Roderick H. J. Houwen, Nanda M. Verhoeven‐Duif, van Hasselt, Peter M, Judith J. M. Jans, Houwen, Roderick Hj, Esmee Vringer, Rumping, Lynne, Metabole ziekten patientenzorg, Metabole ziekten onderzoek 1, Cluster C, Genetica Sectie Metabole Diagnostiek, MDL onderzoek 3, Child Health, Cancer   +18 more
core   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method. [PDF]

J Inherit Metab Dis
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Stolwijk NN, Penninx BMF, Bosch AM, Langeveld M, Salomons GS, Hollak CEM, Essential Nutritional Therapy Products for IMDs Consensus Group.   +6 more
europepmc   +2 more sources

Non-Enzymatic Formation of N-acetylated Amino Acid Conjugates in Urine

Applied Sciences, 2023
Unknown N-acylated amino acid (N-AAA) conjugates have been detected in maple syrup urine disease (MSUD) and other inborn errors of metabolism (IEMs). This study aimed to elucidate the mechanism behind the formation of urinary N-AAA conjugates.
Jano Jacobs, Cornelia Gertina Catharina Elizabeth van Sittert, Lodewyk Japie Mienie, Marli Dercksen, Monique Opperman, Barend Christiaan Vorster   +5 more
doaj   +1 more source

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism Reports, 2023
The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi   +6 more
doaj   +1 more source

Fifteen years experience: Egyptian metabolic lab

Egyptian Journal of Medical Human Genetics, 2014
Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of the ...
Ekram M. Fateen, Amr S. Gouda, Mona M. Ibrahim, Zeinab Y. Abdallah   +3 more
doaj   +1 more source

Inborn Errors of Purine Salvage and Catabolism [PDF]

, 2023
Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, from dietary intake. They are subjected to catabolism, eventually forming uric acid in humans, while bases and nucleosides may be converted ...
Simone Allegrini, Bernardini, Giulia, Pesi, Rossana, Garcia-Gil, Mercedes, Allegrini, Simone, Rossana Pesi, Mercedes Garcia-Gil, Giulia Bernardini, Micheli, Vanna, Tozzi, Maria Grazia, Camici, Marcella, Maria Grazia Tozzi, Vanna Micheli, Marcella Camici   +13 more
core   +1 more source