title: Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.
abstract: BACKGROUND
  Glutaric 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.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  Three 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.
  
  
  CONCLUSIONS
  Individualized 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 />
authors.affiliation: Laboratory Center, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
authors.forename: Lili
authors.initials: L
authors.lastname: Yang
authors.forename: Huaiming
authors.initials: H
authors.lastname: Yin
authors.forename: Rongwang
authors.initials: R
authors.lastname: Yang
authors.forename: Xinwen
authors.initials: X
authors.lastname: Huang
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology* / Q000235:genetics; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology* / Q000235:genetics; D002331:Carnitine / Q000627:therapeutic use; D002681:China / Q000453:epidemiology; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005808:Genes, Recessive; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D009483:Neuropsychological Tests; D012256:Riboflavin / Q000627:therapeutic use; D053719:Tandem Mass Spectrometry; D016896:Treatment Outcome
chemical_list: D050770:Glutaryl-CoA Dehydrogenase; D002331:Carnitine; D012256:Riboflavin