EN
TR
Galactosemia: A Case Referring with Ascites and Liver Failure
Öz
Classic galactosemia appears due to deficiency of galactose-1-transferase (GALT). Patients who were not treated during the early phase refer by growth retardation, jaundice, hemorrhagic disorders, coagulopathy, hepatic function disorders and/or hepatomegalia, cataract, lethargy, hypotony and sepsis since newborn period. There may be patients who refer with ascites. A thirty-five day old male patient referred us because of abdominal distention, inability to gain weight. The infant had ascites and liver failure etiology was investigated; substance from reduced positivity in the urine, bilateral cataract in the eye examination and low galactose-1-phosphare uridyl transferase level were detected. The patient was diagnosed with galactosemia and all findings regressed after lactose free formula. This case report was presented to remind the necessity of consideration of galactosemia in differential diagnosis for the patients who refer by liver failure during early infancy period.
Anahtar Kelimeler
Ayrıntılar
Birincil Dil
İngilizce
Konular
-
Bölüm
-
Yayımlanma Tarihi
1 Eylül 2014
Gönderilme Tarihi
1 Eylül 2014
Kabul Tarihi
-
Yayımlandığı Sayı
Yıl 2014 Cilt: 40 Sayı: 3
APA
Baştürk, A., Artan, R., & Yılmaz, A. (2014). Galactosemia: A Case Referring with Ascites and Liver Failure. Journal of Uludağ University Medical Faculty, 40(3), 165-167. https://izlik.org/JA72ZL59RZ
AMA
1.Baştürk A, Artan R, Yılmaz A. Galactosemia: A Case Referring with Ascites and Liver Failure. Uludağ Tıp Derg. 2014;40(3):165-167. https://izlik.org/JA72ZL59RZ
Chicago
Baştürk, Ahmet, Reha Artan, ve Aygen Yılmaz. 2014. “Galactosemia: A Case Referring with Ascites and Liver Failure”. Journal of Uludağ University Medical Faculty 40 (3): 165-67. https://izlik.org/JA72ZL59RZ.
EndNote
Baştürk A, Artan R, Yılmaz A (01 Eylül 2014) Galactosemia: A Case Referring with Ascites and Liver Failure. Journal of Uludağ University Medical Faculty 40 3 165–167.
IEEE
[1]A. Baştürk, R. Artan, ve A. Yılmaz, “Galactosemia: A Case Referring with Ascites and Liver Failure”, Uludağ Tıp Derg, c. 40, sy 3, ss. 165–167, Eyl. 2014, [çevrimiçi]. Erişim adresi: https://izlik.org/JA72ZL59RZ
ISNAD
Baştürk, Ahmet - Artan, Reha - Yılmaz, Aygen. “Galactosemia: A Case Referring with Ascites and Liver Failure”. Journal of Uludağ University Medical Faculty 40/3 (01 Eylül 2014): 165-167. https://izlik.org/JA72ZL59RZ.
JAMA
1.Baştürk A, Artan R, Yılmaz A. Galactosemia: A Case Referring with Ascites and Liver Failure. Uludağ Tıp Derg. 2014;40:165–167.
MLA
Baştürk, Ahmet, vd. “Galactosemia: A Case Referring with Ascites and Liver Failure”. Journal of Uludağ University Medical Faculty, c. 40, sy 3, Eylül 2014, ss. 165-7, https://izlik.org/JA72ZL59RZ.
Vancouver
1.Ahmet Baştürk, Reha Artan, Aygen Yılmaz. Galactosemia: A Case Referring with Ascites and Liver Failure. Uludağ Tıp Derg [Internet]. 01 Eylül 2014;40(3):165-7. Erişim adresi: https://izlik.org/JA72ZL59RZ
