Results 91 to 100 of about 3,221 (198)

Glutaric Acidemia Type 1: First Saudi Patient Diagnosed by Tandem Mass Spectrometry-Based Neonatal Screening

Annals of Saudi Medicine, 1998
Glutaric acidemia type 1 is an autosomal recessive disease caused by mutations in the glutaryl CoA dehydrogenase gene, leading to the deficiency of this enzyme. 1 As a result, the breakdown of L-lysine, L-hydroxy-lysine and Ltryptophan are interrupted. Approximately 80 cases of glutaric acidemia type 1 have been reported in the literature.
S, Soufi, M S, Rashed, M, Al Essa, M P, Bucknall, A, Refi, F, Badaghesh, H S, Habib, P T, Ozand   +7 more
openaire   +2 more sources

Neonatal Nonketotic Hyperglycinemia: A Severe Case With Prenatal Indicators and Comprehensive Review of Recognition and Management

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme system (GCS), leading to the pathological accumulation of glycine in blood and cerebrospinal fluid (CSF).
Samaneh Parviz, Dariush Hooshyar
wiley   +1 more source

A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I

Egyptian Journal of Medical Human Genetics
Objectives Glutaric aciduria type I (GA-I) is an inborn error of metabolism caused by biallelic variants in the GCDH gene, disrupting lysine and tryptophan catabolism.
Nasrin Zamani, Mohammadi Sarband, Mirab Samiee, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh, Bahareh Rabbani   +6 more
doaj   +1 more source

Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1

International Journal of Neonatal Screening
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in newborn screening (NBS) programs worldwide. Because of the broad biochemical spectrum of individuals with GA1 and the lack of reliable second-tier strategies ...
Elaine Zaunseder, Julian Teinert, Nikolas Boy, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze, Vincent Heuveline   +9 more
doaj   +1 more source

Symptom [PDF]

Genetic Information Not a rare disease but incidence is unknown. No known population at increased risk. ETF alpha subunit: 15q23-25 ETF beta subunit 19q13.3 No known common mutations.
Autosomal Recessive
core  

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core  

Diagnosis and management of glutaric aciduria type I – revised recommendations [PDF]

, 2011
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury
A Boneh, A Cerisola, A Laich, A MacDonald, AA Basinger, AA Monavari, AAM Morris, Alberto B. Burlina, Alessandro P. Burlina, AM Krstulovic, Angels García Cazorla, AP Burlina, Avihu Boneh, AW Elster, B Wilcken, Bridget Wilcken, C Busquets, C Gitiaux, C Mellerio, C Mühlhausen, Cheryl R. Greenberg, Chris Mühlhausen, CR Greenberg, CR Greenberg, D Wert, David M. Koeller, DEM Francis, DH Chace, DH Morton, DW Seccombe, E Christensen, E Christensen, E Monbaliu, E Müller, E Neumaier-Probst, EA Crombez, Edith Müller, EL Twomey, EP Treacy, ER Naughten, Ernst Christensen, G Huner, G Rakocevic, Georg F. Hoffmann, GF Hoffmann, GF Hoffmann, I Baric, I Harting, J Brismar, J Heringer, J Rice, J Woelfle, J Zschocke, James V. Leonard, JB Hennermann, JC Haworth, JF Martinez-Lage, JH Walter, JH Walter, JK Hald, Jürgen G. Okun, KA Strauss, KA Strauss, KB Bjugstad, KG Dewey, KK Oguz, LM Hartley, M Dixon, M Kyllerman, M Kyllerman, M Köhler, M Lindner, M Lindner, M Nasser, M Rijn Van, Marinus Duran, Marjorie Dixon, MH Beauchamp, MJ Barry, MJ Thomason, MS Watson, Mårten Kyllerman, N Napolitano, NJ Brandt, NK Desai, O Bähr, OY Al-Dirbashi, P Garcia, Peter Burgard, PH Lipkin, R Forstner, RA Chalmers, RC Gallagher, RJ Pollitt, S Bijarnia, S Kölker, S Kölker, S Kölker, S Külkens, S Tortorelli, S Yannicelli, SI Goodman, SI Goodman, SK Lin, Stefan Kölker, Stephen I. Goodman, SW Sauer, TD Sanger, V Lütcherath, V Prietsch, VM McClelland, WE Smith, WJ Zinnanti, World Health Organization, Y Shigematsu, Z Fu, ZA Jamjoom   +116 more
core   +3 more sources

Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
Statistical analysis of the correlation between the false positives in C5‐carnitine screening and treatment with pivalate‐generating antibiotics. The novel second‐tier screening via UPLC‐tandem mass spectrum (MS/MS) was described in comparison with conventional MS/MS.
Wei Zhou, Ting Huang, Huizhong Li, Maosheng Gu   +3 more
wiley   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, Volume 12, Issue 9, Page 1421-1424, September 2025.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel

Prenatal Diagnosis, Volume 44, Issue 11, Page 1335-1343, October 2024.
Abstract Objective This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes.
Sha Liu, Shuang Huang, Victor Wei Zhang, Liyuan Cao, Haipeng Liu, Xiang Wei, Yuan Luo, Yue Li, Lin Zhou, Fuping Li, Qian Zhu, Hongqian Liu   +11 more
wiley   +1 more source