PMID- 33578440
OWN - NLM
STAT- MEDLINE
DCOM- 20220406
LR  - 20220406
IS  - 1439-1899 (Electronic)
IS  - 0174-304X (Linking)
VI  - 52
IP  - 5
DP  - 2021 Oct
TI  - The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the 
      Turkish NBS.
PG  - 358-369
LID - 10.1055/s-0040-1722691 [doi]
AB  - BACKGROUND: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic 
      aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic 
      crises during the first 6 years of life. In so far as GA-1 desperately does not 
      exist in Turkish newborn screening (NBS) program, most patients in our study were 
      late-diagnosed. METHOD: This study included 41 patients diagnosed with 
      acylcarnitine profile, urinary organic acids, mutation analyses in the 
      symptomatic period. We presented with clinical, neuroradiological, and molecular 
      data of our 41 patients. RESULTS: The mean age at diagnosis was 14.8 +/- 13.9 (15 
      days to 72 months) and, high blood glutaconic acid, glutarylcarnitine and urinary 
      glutaric acid (GA) levels in 41 patients were revealed. Seventeen different 
      mutations in the glutaryl-CoA dehydrogenase gene were identified, five of which 
      were novel. The patients, most of whom were late-diagnosed, had a poor 
      neurological outcome. Treatment strategies made a little improvement in dystonia 
      and the frequency of encephalopathic attacks. CONCLUSION: All GA-1 patients in 
      our study were severely affected since they were late-diagnosed, while others 
      show that GA-1 is a treatable metabolic disorder if it is diagnosed with NBS. 
      This study provides an essential perspective of the severe impact on GA-1 
      patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be 
      included in the Turkish NBS.
CI  - Thieme. All rights reserved.
FAU - Kilavuz, Sebile
AU  - Kilavuz S
AUID- ORCID: 0000-0002-7527-2620
AD  - Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, 
      Cukurova University Faculty of Medicine, Adana, Turkey.
FAU - Bulut, Derya
AU  - Bulut D
AUID- ORCID: 0000-0003-0529-2404
AD  - Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, 
      Cukurova University Faculty of Medicine, Adana, Turkey.
FAU - Kor, Deniz
AU  - Kor D
AUID- ORCID: 0000-0002-4362-3107
AD  - Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, 
      Cukurova University Faculty of Medicine, Adana, Turkey.
FAU - Seker-Yilmaz, Berna
AU  - Seker-Yilmaz B
AUID- ORCID: 0000-0003-0425-0341
AD  - Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Mersin 
      University Faculty of Medicine, Mersin, Turkey.
FAU - Ozcan, Neslihan
AU  - Ozcan N
AUID- ORCID: 0000-0003-4352-1685
AD  - Division of Pediatric Neurology, Department of Pediatrics, Cukurova University 
      Faculty of Medicine, Adana, Turkey.
FAU - Incecik, Faruk
AU  - Incecik F
AUID- ORCID: 0000-0003-1901-910X
AD  - Division of Pediatric Neurology, Department of Pediatrics, Cukurova University 
      Faculty of Medicine, Adana, Turkey.
FAU - Onan, Bilen
AU  - Onan B
AUID- ORCID: 0000-0002-1486-2782
AD  - Department of Radiology, Cukurova University Faculty of Medicine, Adana, Turkey.
FAU - Ceylaner, Gulay
AU  - Ceylaner G
AUID- ORCID: 0000-0003-0648-9831
AD  - Department of Medical Genetics, Intergen Genetics Centre, Ankara, Turkey.
FAU - Onenli-Mungan, Neslihan
AU  - Onenli-Mungan N
AUID- ORCID: 0000-0001-7862-3038
AD  - Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, 
      Cukurova University Faculty of Medicine, Adana, Turkey.
LA  - eng
PT  - Journal Article
DEP - 20210212
PL  - Germany
TA  - Neuropediatrics
JT  - Neuropediatrics
JID - 8101187
RN  - 0 (Glutarates)
RN  - EC 1.3.8.6 (Glutaryl-CoA Dehydrogenase)
RN  - H849F7N00B (glutaric acid)
RN  - Glutaric Acidemia I
SB  - IM
MH  - *Amino Acid Metabolism, Inborn Errors/genetics
MH  - *Brain Diseases, Metabolic
MH  - Glutarates
MH  - Glutaryl-CoA Dehydrogenase/deficiency
MH  - Humans
MH  - Infant, Newborn
MH  - Neonatal Screening
COIS- No conflict of interest was declared by the authors. The funding organization(s) 
      played no role in the study design, in the collection, analysis, and 
      interpretation of data, in the writing of the report, or in the decision to 
      submit the report for publication.
EDAT- 2021/02/13 06:00
MHDA- 2022/04/07 06:00
CRDT- 2021/02/12 20:22
PHST- 2021/02/13 06:00 [pubmed]
PHST- 2022/04/07 06:00 [medline]
PHST- 2021/02/12 20:22 [entrez]
AID - 10.1055/s-0040-1722691 [doi]
PST - ppublish
SO  - Neuropediatrics. 2021 Oct;52(5):358-369. doi: 10.1055/s-0040-1722691. Epub 2021 
      Feb 12.