ArticleOrphanet journal of rare diseases2021
Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 20 citations in OpenAlex.
- Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.International journal of neonatal screening · 2026Article
- Pathogenic Analysis of TwoInternational journal of neonatal screening · 2026Article
- Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.International journal of neonatal screening · 2026Article
- Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.Molecular genetics and metabolism reports · 2026Article
- Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.Journal of inherited metabolic disease · 2025Review
- Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.European journal of pediatrics · 2024Article
- Clinical features andMolecular genetics and metabolism reports · 2024Article
- Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.Journal of medical genetics · 2023Article
- Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.Orphanet journal of rare diseases · 2023Article
- Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.JIMD reports · 2023Article
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7 authors at 1 institution in 1 country.
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Abstract
backgroundGlutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (NBS) are scarce in the Chinese population. This study aimed to assess the acylcarnitine profiles and genetic characteristics of patients with GA1 identified through NBS.
resultsFrom January 2014 to September 2020, 517,484 newborns were screened by tandem mass spectrometry, 102 newborns with elevated glutarylcarnitine (C5DC) levels were called back. Thirteen patients were diagnosed with GA1, including 11 neonatal GA1 and two maternal GA1 patients. The incidence of GA1 in the Quanzhou region was estimated at 1 in 47,044 newborns. The initial NBS results showed that all but one of the patients had moderate to markedly increased C5DC levels. Notably, one neonatal patient with low free carnitine (C0) level suggest primary carnitine deficiency (PCD) but was ultimately diagnosed as GA1. Nine neonatal GA1 patients underwent urinary organic acid analyses: eight had elevated GA and 3HGA levels, and one was reported to be within the normal range. Ten distinct GCDH variants were identified. Eight were previously reported, and two were newly identified. In silico prediction tools and protein modeling analyses suggested that the newly identified variants were potentially pathogenic. The most common variant was c.1244-2 A>C, which had an allelic frequency of 54.55% (12/22), followed by c.1261G>A (p.Ala421Thr) at 9.09% (2/22).
conclusionsNeonatal GA1 patients with increased C5DC levels can be identified through NBS. Maternal GA1 patients can also be detected using NBS due to the low C0 levels in their infants. Few neonatal GA1 patients may have atypical acylcarnitine profiles that are easy to miss during NBS; therefore, multigene panel testing should be performed in newborns with low C0 levels. This study indicates that the GCDH variant spectra were heterogeneous in this southern Chinese cohort.
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