ArticleMetabolic brain disease2013
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
Article in Metabolic brain disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.International journal of molecular sciences · 2023Article
- Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.Molecular genetics and genomics : MGG · 2023Review
- Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.Orphanet journal of rare diseases · 2021Article
- Aging-related markers in rat urine revealed by dynamic metabolic profiling using machine learning.Aging · 2021Article
- Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.Frontiers in genetics · 2021Article
- Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice.Scientific reports · 2020Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
- Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.Italian journal of pediatrics · 2018Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Review
- [Limb torsion and developmental regression for one month after hand, foot and mouth disease in an infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series.JIMD reports · 2015Article
- Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.JIMD reports · 2015Article
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Authors and funding
8 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to evaluate the outcomes of patients detected through newborn screening. Newborns diagnosed with GA-I by abnormal dried blood spot glutarylcarnitine (C5DC) levels followed in our hospital were included in this study. They were treated with special diets, carnitine supplements, and immediate stress avoidance. Six patients were included in this study. All patients were treated prior to reaching 1 month of age. They were followed up with for 4 to 9 years. One patient had encephalopathic crisis episodes prior to turning 1 year old that caused pallidal lesions. Another patient had a chronic progressive disease during infancy that caused bilateral putamen lesions. These two patients had delayed development, but their brain lesions were resolved. The other four patients ran uneventful courses. They had normal intelligenece, ranged between average to low average level and their brain magnetic resonance imaging showed only high intensity over deep white matter. Patients with GA-I diagnosed by newborn screening have promising outcomes, though the risks of disease progression prior to 1 year of age remain significant.
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