Results 1 to 10 of about 3,681 (121)

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population [PDF]

Frontiers in Pediatrics
BackgroundNewborn screening (NBS) is a crucial public health initiative designed to detect genetic, metabolic, and endocrine disorders in infants before clinical symptoms appear.
Khadija Shafique, Afsheen Raza, Afsheen Raza, Ariba Naushad, Fathima Hussain, Duaa Walid, Laila Wareth, Ayman W. El-Hattab, Ayman W. El-Hattab, Rania Nabil Bedair, Rania Nabil Bedair, Rania Al Dweik, Rania Al Dweik, Najwane Said Sadier, Najwane Said Sadier, Najwane Said Sadier   +15 more
doaj   +2 more sources

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell‐free translation method

JIMD Reports, 2019
Classic galactosemia is an autosomal recessive disorder caused by deleterious variants in the galactose‐1‐phosphate uridylyltransferase (GALT) gene. GALT enzyme deficiency leads to an increase in the levels of galactose and its metabolites in the blood ...
Daffodil M Canson, Catherine Lynn T Silao   +1 more
exaly   +2 more sources

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience [PDF]

Clinical Case Reports
Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose‐1‐phosphate‐uridyltransferase deficiency.
Mohammadreza Alaee, Hedyeh Saneifard, Marjan Shakiba, Marjan Hanifeh, Shirin Moarefian   +4 more
doaj   +2 more sources

Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial [PDF]

Orphanet Journal of Rare Diseases
Background Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic ...
Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge   +7 more
doaj   +2 more sources

Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele

Molecular Genetics and Metabolism Reports, 2020
Background: Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in various
Carolina Crespo, Hernán Eiroa, María Inés Otegui, Mara Cecilia Bonetto, Lilien Chertkoff, Luis Pablo Gravina   +5 more
doaj   +1 more source

Experiences with galactosemia in Croatia [PDF]

Liječnički vjesnik, 2023
The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1 ...
Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka†, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić   +18 more
doaj   +1 more source

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

International Journal of Neonatal Screening, 2021
The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4′-epimerase (GALE), are ...
Atsuo Kikuchi, Yoichi Wada, Toshihiro Ohura, Shigeo Kure   +3 more
doaj   +1 more source

Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women

Molecular Genetics & Genomic Medicine, 2022
Background Several inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL).
Tat‐Thanh Nguyen, Quang‐Thanh Le, Diem‐Tuyet Thi Hoang, Huu Du Nguyen, Thi Minh Thi Ha, My‐Nhi Ba Nguyen, Thanh‐Thuy Thi Ta, Nhat Thang Tran, Thu Huong Nhat Trinh, Kim Phuong Thi Doan, Duc Tam Lam, Son Tra Thi Tran, Thanh Xuan Nguyen, Hong‐Thinh Le, Van Tuan Ha, Manh Hoan Nguyen, Ba‐Liem Kim Le, My Linh Duong, Trung Ha Pham, Anh Tuan Tran, Xuan Lan Thi Phan, Thanh Liem Huynh, Lan‐Phuong Thi Nguyen, Thanh Binh Vo, Duy‐Khang Nguyen Le, Ngoc Nhu Thi Tran, Quynh Nhu Thi Tran, Yen‐Linh Thi Van, Bich‐Ngoc Thi Huynh, Thanh‐Phương Thi Nguyen, Trang Thi Dao, Lan Phuong Thi Nguyen, Truong‐Giang Vo, Thanh‐Thuy Thi Do, Dinh‐Kiet Truong, Hung Sang Tang, Minh‐Duy Phan, Hoai‐Nghia Nguyen, Hoa Giang   +38 more
doaj   +1 more source

Galactose oxidation using 13C in healthy and galactosemic children [PDF]

Brazilian Journal of Medical and Biological Research, 2015
Galactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency. The ability to assess galactose oxidation following administration of a galactose-labeled isotope (1 ...
D.R. Resende-Campanholi, G. Porta, E. Ferrioli, K. Pfrimer, L.A. Del Ciampo, J.S. Camelo Junior   +5 more
doaj   +3 more sources

Two siblings with galactose mutarotase deficiency: Clinical differences

JIMD Reports, 2022
Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported.
Havva Yazici, Ebru Canda, Yasemin Atik Altınok, Sema Kalkan Ucar, Mahmut Coker   +4 more
doaj   +1 more source