The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Sebile Kılavuz; Derya Bulut; Deniz Kor; Berna Şeker-Yılmaz; Neslihan Özcan; Faruk Incecik; Bilen Onan; Gülay Ceylaner; Neslihan Önenli-Mungan

doi:10.1055/s-0040-1722691

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2021; 52(05): 358-369
DOI: 10.1055/s-0040-1722691

Original Article

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Autor*innen

Sebile Kılavuz

¹Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
Derya Bulut

¹Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
Deniz Kor

¹Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
Berna Şeker-Yılmaz

²Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Mersin University Faculty of Medicine, Mersin, Turkey
Neslihan Özcan

³Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
Faruk Incecik

³Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
Bilen Onan

⁴Department of Radiology, Çukurova University Faculty of Medicine, Adana, Turkey
Gülay Ceylaner

⁵Department of Medical Genetics, Intergen Genetics Centre, Ankara, Turkey
Neslihan Önenli-Mungan

¹Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey

Abstract

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.

Keywords

glutaric aciduria type 1 - acute encephalopathic crises - newborn screening program - dystonia

Volltext

Referenzen

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