Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
Küçük Resim Yok
Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Walter De Gruyter Gmbh
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5-20), while the median age at diagnosis was 30 days (range 17-53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.
Açıklama
Anahtar Kelimeler
Classical galactosemia, GALT variations, time of diagnosis
Kaynak
Journal of Pediatric Endocrinology & Metabolism
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
32
Sayı
7
