ArticleMedical science monitor : international medical journal of experimental and clinical research2011
Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.
Article in Medical science monitor : international medical journal of experimental and clinical research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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9 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.Orphanet journal of rare diseases · 2021Article
- Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2021Article
- [Effect of glutaryl-CoA dehydrogenase gene silencing and high-concentration lysine on the viability of BRL hepatocytes].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- 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
- Article
- Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China.BMC pediatrics · 2012Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China. MATERIAL/
methodsA total of 129,415 newborns (accounting for approximately one-tenth of the annual births in Zhejiang Province) and 9640 high-risk infants were screened for inborn errors of metabolism in the Neonatal Screening Center of Zhejiang Province during a 3-year period. Tandem mass spectrometry and gas chromatography-mass spectrometry were used for diagnosis of the patients. Dietary modification, carnitine supplementation and aggressive treatment of intercurrent illnesses were adapted for GA I patients.
resultsThree infants were diagnosed with GA I by high-risk screening (detection rate: 1/3,213) and 2 were diagnosed by newborn screening (incidence: 1/64,708). Four patients (3 by high-risk screening and 1 by neonatal screening) undergoing MRI examination showed remarkable changes on T2-weighted image. Four patients accepted timely treatment, and in the patient diagnosed by neonatal screening, treatment was delayed until hypotonia appeared 3 months later. Neuropsychological assessment showed mental and motor retardation in 3 patients after treatment, including the patient diagnosed by neonatal screening.
conclusionsIndividualized timely treatment and close monitoring of GA I patients needs to be optimized in China. Appropriate communication with parents may help to achieve successful management of GA I patients.<br />
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