Assit ve Karaciğer Yetmezliği ile Başvuran Atriyal Septal Defektli Bir Galaktozemi Vakası

Öz

Galaktozemi, galaktoz metabolizmasında rol alan galaktoz- 1-fosfat üridil transferaz, galaktokinaz ve üridin difosfat galaktoz-4-epimeraz enzimlerinden birinin eksikliğinden kaynaklanan doğuştan metabolik bir hastalıktır. En sık görülen enzim eksikliği klasik galaktozemiye neden olan galaktoz-1-fosfat üridil transferaz eksikliğidir. Bu enzim eksikliğinde galaktoz ve metabolitleri karaciğer, beyin, lens, böbrekler, dil, deri fibroblastları gibi vucudun değişik yerlerinde birikir. Klinik bulgular genellikle yaşamın ilk haftasından sonra ortaya çıkar. En sık görülen klinik bul- guları beslenme sorunları, sarılık, kusma, hipotoni ve hepatomegalidir. Ender olarak bazı vakalar erken dönem- de karın şişliği ve batında assit belirtileri ile başvurabilir. Burada yenidoğan döneminde başlayıp hızlı ilerleyen batında assit ile başvuran 29 günlük atrial septal defektli bir galaktozemili vaka sunuldu

Anahtar Kelimeler

• Assit,atrial septal defekt,galaktozemi,yenidoğan

Case of Galactosemia with Atrial Septal Defect Presenting with Ascites and Liver Failure

Öz

Galactosemia is a congenital metabolic disease resulting from the deficiency of one of the galactose-1-phosphate uridyl transferase, galactokinase and uridine diphosphate galactose-4-epimerase enzymes involved in galactose metabolism. The most common enzyme deficiency is galactose-1-phosphate uridyl transferase deficiency which causes classical galactosemia. In the absence of this enz- yme, galactose and its metabolites accumulate in various parts of the body such as the liver, brain, lens, kidneys, tongue, and skin fibroblasts. Clinical findings usually emerge after the first week of life. The most common clini- cal findings are nutritional problems, jaundice, vomiting, hypotonia and hepatomegaly. Rarely, some cases may be seen with early abdominal swelling and ascites in the abdomen. In this study, we presented a 29 - day - old new- born with galactosemia and atrial septal defect who was presented with abdominal ascites that started from birth and progressed rapidly

Anahtar Kelimeler

• Ascite,atrial septal defect,galactosemia,neonatal

Kaynakça

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