PMID- 24587932
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140303
LR  - 20211021
IS  - 2090-6803 (Print)
IS  - 2090-6811 (Electronic)
VI  - 2014
DP  - 2014
TI  - A treatable neurometabolic disorder: glutaric aciduria type 1.
PG  - 256356
LID - 10.1155/2014/256356 [doi]
LID - 256356
AB  - Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, 
      hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA 
      dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric 
      acid. Affected patients can present with brain atrophy and macrocephaly and with 
      acute dystonia secondary to striatal degeneration in most cases triggered by an 
      intercurrent childhood infection with fever between 6 and 18 months of age. We 
      report two such cases with macrocephaly, typical MRI pictures, and tandem mass 
      spectrometry suggestive of glutaric aciduria type 1.
FAU - Pusti, S
AU  - Pusti S
AD  - Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose 
      Sarani, Kolkata, West Bengal 700004, India.
FAU - Das, N
AU  - Das N
AD  - Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose 
      Sarani, Kolkata, West Bengal 700004, India.
FAU - Nayek, K
AU  - Nayek K
AD  - Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose 
      Sarani, Kolkata, West Bengal 700004, India.
FAU - Biswas, S
AU  - Biswas S
AD  - Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose 
      Sarani, Kolkata, West Bengal 700004, India.
LA  - eng
PT  - Journal Article
DEP - 20140127
PL  - United States
TA  - Case Rep Pediatr
JT  - Case reports in pediatrics
JID - 101581030
PMC - PMC3921946
EDAT- 2014/03/04 06:00
MHDA- 2014/03/04 06:01
PMCR- 2014/01/27
CRDT- 2014/03/04 06:00
PHST- 2013/10/10 00:00 [received]
PHST- 2013/11/25 00:00 [accepted]
PHST- 2014/03/04 06:00 [entrez]
PHST- 2014/03/04 06:00 [pubmed]
PHST- 2014/03/04 06:01 [medline]
PHST- 2014/01/27 00:00 [pmc-release]
AID - 10.1155/2014/256356 [doi]
PST - ppublish
SO  - Case Rep Pediatr. 2014;2014:256356. doi: 10.1155/2014/256356. Epub 2014 Jan 27.