title: [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
abstract: OBJECTIVE
  To investigate the clinical, biochemical and genetic profiles of 28 Chinese patients with glutaric aciduria type 1.
  
  
  METHODS
  Twenty-eight patients with glutaric aciduria type 1 seen in the Department of Pediatrics, Peking University First Hospital from July 2003 to October 2013 were studied. The data of clinical course, laboratory examinations, cranial MRI and GCDH gene mutations of the patients were analyzed.
  
  
  RESULTS
  (1) Three cases were detected by newborn screening, and the other patients were diagnosed at the age of 2 months to 17 years. (2) 22 patients (79%) were infant onset cases with psychomotor retardation, dystonia, seizures, athetosis, recurrent vomiting, drowsiness or feeding difficulty. Only two of the 22 patients with infant onset got normal intelligence and movement after treatment. Twenty of them were improved slowly with delayed development, dystonia and other neurological problems. Three patients (11%) had late onset. They had motor regression, headache and seizure at the age of 8, 9 and 17 years, respectively. Rapid improvement was observed after treatment. (3) Cranial MRI has been checked in 23 patients; 22 of them showed characteristic widening of the Sylvian fissure, abnormalities of the basal ganglia, leukoencephalopathy and brain atrophy. Thirty-five mutations in GCDH gene of the patients were identified; c.148T>C (p.W50R) was the most common mutation with the frequency of 7.7%; 6 mutations (c.628A>G, c.700C>T, c.731G>T, c.963G>C, c.1031C>T and c.1109T>C) were novel.
  
  
  CONCLUSIONS
  Glutaric aciduria type 1 usually induced neurological deterioration resulting in severe psychomotor retardation and dystonia. Most of our patients were clinically diagnosed. Patients with early onset usually remained having neurological damage. Phenotype and genotype correlation has not been found in the patients. Neonatal screening for organic acidurias should be expanded in China.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Qiao
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yupeng
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xiyuan
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Tongfei
authors.initials: T
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Jinqing
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yujie
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Email: organic.acid@126.com.
authors.forename: Yanling
authors.initials: Y
authors.lastname: Yang
mesh_terms: D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000209:etiology / Q000473:pathology; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies
chemical_list: D005977:Glutarates; D050770:Glutaryl-CoA Dehydrogenase