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Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

Abstract
Patients with Glutaric aciduria type 1 (GA-1) can be identified by newborn screening using tandem mass spectrometry. The clinical evolution of screened patients seems to be more favourable compared with those diagnosed later, although long-term evolution is still doubtful. We have evaluated the outcome in nine GA-1 patients diagnosed in our region during 12 years. Six were detected by newborn screening and 3 clinically. The birth prevalence was 1:35,027. High blood C5DC concentration, in 8/9 patients, was found, whereas all patients exhibited high concentration of this metabolite in urine. Therefore, urine C5DC was a good marker for the detection of this disease. Eight different mutations in the GCDH gene were identified, four of them were novel (p.R88H, p.Y398C, p.R372K, p.D220N); being p.R227P the mostcommon. Macrocephaly with enlarged frontotemporal subarachnoid space was present in 4/6 patients diagnosed by newborn screening, all these patients required high energy intake, and in two cases, enteral feeding during the first year of life was needed. One child had an intercurrent episode of feeding refuse with hypoglycemia at two years of age. The mean follow-up time of screened patients was 56 months, and patients still remain asymptomatic. However, after a mean follow-up of 97 months treatment efficacy was poor in unscreened patients, two of them showing a severe spastic tetraparesis. Plasma levels of lysine, tryptophan and carnitine, were the most useful biomarkers for the follow-up. Our data support that, early diagnosis and treatment strategies are essential measures for the good clinical evolution of GA-1 patients.
AuthorsMa Luz Couce, Olalla López-Suárez, Ma Dolores Bóveda, Daisy E Castiñeiras, José A Cocho, Judith García-Villoria, Manuel Castro-Gago, José Ma Fraga, Antonia Ribes
JournalEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 17 Issue 4 Pg. 383-9 (Jul 2013) ISSN: 1532-2130 [Electronic] England
PMID23395213 (Publication Type: Journal Article)
CopyrightCopyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Chemical References
  • glutarylcarnitine
  • Glutaryl-CoA Dehydrogenase
  • Carnitine
Topics
  • Amino Acid Metabolism, Inborn Errors (blood, diagnosis, genetics)
  • Brain Diseases, Metabolic (blood, diagnosis, genetics)
  • Carnitine (analogs & derivatives, blood)
  • Delayed Diagnosis
  • Early Diagnosis
  • Female
  • Glutaryl-CoA Dehydrogenase (blood, deficiency, genetics, metabolism)
  • Humans
  • Infant, Newborn
  • Longitudinal Studies
  • Male
  • Mutation (genetics)
  • Outcome Assessment, Health Care
  • Retrospective Studies
  • Tandem Mass Spectrometry
  • Time Factors

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