Results 51 to 60 of about 1,520,545 (236)

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

BMC Medical Genetics, 2019
Background Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations.
Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib   +9 more
doaj   +1 more source

Behavioral and intellectual functioning in patients with tyrosinemia type I [PDF]

Pediatric Endocrinology, Diabetes and Metabolism, 2012
Introduction: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients’ cognitive development.
Agnieszka Kowalik, Katarzyna Kuśmierska, Marcin Biernacki, Anna Jakubowska-Winecka, Marta Biernacka, Monika Pohorecka, Jolanta Sykut-Cegielska   +6 more
doaj  

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

Case Reports in Genetics, 2012
Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13 ...
Jayesh J. Sheth, Chitra M. Ankleshwaria, Rajeshwari Pawar, Frenny J. Sheth   +3 more
doaj   +1 more source

Coordinated Cross-Talk Between the Myc and Mlx Networks in Liver Regeneration and NeoplasiaSummary

Cellular and Molecular Gastroenterology and Hepatology, 2022
Background & Aims: The c-Myc (Myc) Basic helix-loop-helix leucine zipper (bHLH-ZIP) transcription factor is deregulated in most cancers. In association with Max, Myc controls target genes that supervise metabolism, ribosome biogenesis, translation ...
Huabo Wang, Jie Lu, Frances Alencastro, Alexander Roberts, Julia Fiedor, Patrick Carroll, Robert N. Eisenman, Sarangarajan Ranganathan, Michael Torbenson, Andrew W. Duncan, Edward V. Prochownik   +10 more
doaj   +1 more source

Mutation Spectrum of Tyrosinemia Type I in Iran, A Retrospective Cohort Study.

European Journal of Medical Genetics
Hereditary Tyrosinemia Type 1 (HT1) is a genetic disorder characterized by an autosomal recessive inheritance pattern, caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, which results in a deficiency of fumarylacetoacetase. In our study,
Zahra Beyzaei, Zahra Goudarzi, S. Dehghani, Hossein Moravej, M. Imanieh, M. Ataollahi, Mozhdeh Heidari, B. Geramizadeh   +7 more
semanticscholar   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Quantitative Succinylacetone Measurement by Gas Chromatography‐Tandem Mass Spectrometry (GC–MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditional diagnostic methods in most cases.
Denis Cyr, Bruno Maranda, Paula J. Waters   +2 more
wiley   +1 more source

Late Diagnosis of Hereditary Tyrosinemia Type I: The Case of Two First Cousins

International Journal of Innovative Science and Research Technology
Hereditary Tyrosinemia Type I (HT1) is a rare metabolic disorder caused by a deficiency in fumarylacetoacetate hydrolase, leading to the accumulation of toxic metabolites and resulting in hepatic and renal complications.
K. Kabbaj, R. Jahouer, C. Nahi, K. Mouadine, N. Oulehyane, T. Benouachane, B. Chkirat   +6 more
semanticscholar   +1 more source