title: Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.
abstract: Between October 2001 and September 2007, a total number of 391,651 neonates were screened in Victoria using Tandem Mass Spectrometry and 6 newborns were diagnosed as having GA I, giving an incidence of 1:65,275 (CI: 1:29,988=1:177,861). Another patient was diagnosed through cascade screening of children born before the implementation of the expanded newborn screening program. Patients were treated by mild protein restriction (2-2.5 g/kg/day) and carnitine supplementation when well, focussing on the aggressive management of intercurrent illnesses (temporary cessation of protein intake, increase in calorie intake, IV carnitine, aggressive anti febrile and anti infectious treatment), including prophylactic admissions to hospital. Overall, our patients had 35 admissions to hospital, of which 15 were in the first year of life. None had a post infectious dystonic syndrome. Neuropsychological examinations revealed normal to high cognitive and gross motor function in all patients but one, with some deficiencies in fine motor activities and different levels of speech abnormalities in all patients. Since therapeutic approaches for GA I, although not uniform, are well established and have been documented to be effective, newborn screening for this disorder should prove justified. A therapeutic approach of dietary modification, IV carnitine and aggressive treatment of intercurrent illness seems to prevent the severe neurological complications of GA I. More in-depth consideration of speech and language function is necessary to document specific deficits in children with GA I and plan proactive interventions.
authors.affiliation: Metabolic Service, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Victoria 3052, Australia. avihu.boneh@ghsv.org.au
authors.forename: Avihu
authors.initials: A
authors.lastname: Boneh
authors.forename: Miriam
authors.initials: M
authors.lastname: Beauchamp
authors.forename: Maureen
authors.initials: M
authors.lastname: Humphrey
authors.forename: Jemma
authors.initials: J
authors.lastname: Watkins
authors.forename: Heidi
authors.initials: H
authors.lastname: Peters
authors.forename: Joy
authors.initials: J
authors.lastname: Yaplito-Lee
mesh_terms: D001315:Australia; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D015997:Neonatal Screening; D009483:Neuropsychological Tests; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D005977:Glutarates; C035736:glutaric acid