PMID- 23395213
OWN - NLM
STAT- MEDLINE
DCOM- 20140123
LR  - 20191210
IS  - 1532-2130 (Electronic)
IS  - 1090-3798 (Linking)
VI  - 17
IP  - 4
DP  - 2013 Jul
TI  - Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
PG  - 383-9
LID - S1090-3798(13)00006-8 [pii]
LID - 10.1016/j.ejpn.2013.01.003 [doi]
AB  - 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.
CI  - Copyright (c) 2013 European Paediatric Neurology Society. Published by Elsevier 
      Ltd. All rights reserved.
FAU - Couce, Ma Luz
AU  - Couce ML
AD  - Unidad de Diagnostico y Tratamiento de Enfermedades Congenitas del Metabolismo, 
      Departamento de Pediatria, Hospital Clinico Universitario, Universidad de 
      Santiago, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es
FAU - Lopez-Suarez, Olalla
AU  - Lopez-Suarez O
FAU - Boveda, Ma Dolores
AU  - Boveda MD
FAU - Castineiras, Daisy E
AU  - Castineiras DE
FAU - Cocho, Jose A
AU  - Cocho JA
FAU - Garcia-Villoria, Judith
AU  - Garcia-Villoria J
FAU - Castro-Gago, Manuel
AU  - Castro-Gago M
FAU - Fraga, Jose Ma
AU  - Fraga JM
FAU - Ribes, Antonia
AU  - Ribes A
LA  - eng
PT  - Journal Article
DEP - 20130205
PL  - England
TA  - Eur J Paediatr Neurol
JT  - European journal of paediatric neurology : EJPN : official journal of the 
      European Paediatric Neurology Society
JID - 9715169
RN  - 109006-11-3 (glutarylcarnitine)
RN  - EC 1.3.8.6 (Glutaryl-CoA Dehydrogenase)
RN  - S7UI8SM58A (Carnitine)
RN  - Glutaric Acidemia I
SB  - IM
MH  - Amino Acid Metabolism, Inborn Errors/blood/*diagnosis/genetics
MH  - Brain Diseases, Metabolic/blood/*diagnosis/genetics
MH  - Carnitine/analogs & derivatives/blood
MH  - Delayed Diagnosis
MH  - Early Diagnosis
MH  - Female
MH  - Glutaryl-CoA Dehydrogenase/blood/*deficiency/genetics/metabolism
MH  - Humans
MH  - Infant, Newborn
MH  - Longitudinal Studies
MH  - Male
MH  - Mutation/genetics
MH  - *Outcome Assessment, Health Care
MH  - Retrospective Studies
MH  - Tandem Mass Spectrometry
MH  - Time Factors
EDAT- 2013/02/12 06:00
MHDA- 2014/01/24 06:00
CRDT- 2013/02/12 06:00
PHST- 2012/06/07 00:00 [received]
PHST- 2012/12/22 00:00 [revised]
PHST- 2013/01/01 00:00 [accepted]
PHST- 2013/02/12 06:00 [entrez]
PHST- 2013/02/12 06:00 [pubmed]
PHST- 2014/01/24 06:00 [medline]
AID - S1090-3798(13)00006-8 [pii]
AID - 10.1016/j.ejpn.2013.01.003 [doi]
PST - ppublish
SO  - Eur J Paediatr Neurol. 2013 Jul;17(4):383-9. doi: 10.1016/j.ejpn.2013.01.003. 
      Epub 2013 Feb 5.