📂 Diseases
glycogen storage disease IXc — Definition
Glikojen Depo Hastalığı Tip IXc / glycogen storage disease IXc
Glicogen Depot disease type IXc is a rare metabolic disease, which consists of gluogen phosphorusylase kinase enzyme in the lower part of gamma (PHKG2 gene). The lack of this enzyme leads to hepatomegaly (carcinary growth), hypoglycemia (low blood sugar) and growth retardation by disrupting the conversion of glycogen in the liver. The disease is autozomal resesif inherited and usually gives a symptom in childhood; blood sugar levels are studied to be kept under control with frequent nutrition and starch supplement in the treatment.
Disease Definition
🔬 Disease Definition
Glikojen depo hastalığı tip IXc, fosforilaz kinaz enziminin gama alt birimindeki mutasyonlar sonucu oluşan, otozomal resesif geçişli, karaciğer ve kasları etkileyen nadir bir metabolik hastalıktır.
🧬 Causes & Risk Factors
PHKG2 genindeki mutasyonlar, fosforilaz kinaz enziminin gama katalitik alt biriminin işlevini bozarak glikojen yıkımını engeller.
🩺 Symptoms & Signs
Hepatomegali, hipoglisemi, büyüme geriliği, kas zayıflığı, egzersiz intoleransı, açlıkta ketozis, karaciğer transaminazlarında yükselme.
📋 Diagnostic Methods
Klinik bulgular, karaciğer biyopsisi (glikojen birikimi, düşük fosforilaz kinaz aktivitesi), genetik test (PHKG2 mutasyon analizi).
💊 Treatment Options
Sık aralıklı beslenme, çiğ mısır nişastası takviyesi, hipoglisemiden kaçınma, yüksek karbonhidratlı diyet; ciddi vakalarda karaciğer nakli.
⚠️ Complications
Tekrarlayan hipoglisemi, hepatik adenom, siroz, büyüme ve gelişme geriliği, kas güçsüzlüğü.
Frequently Asked Questions
❓ What is Glikojen Depo Hastalığı Tip IXc?
Glikojen Depo Hastalığı Tip IXc; glicogen Depot disease type IXc is a rare metabolic disease, which consists of gluogen phosphorusylase kinase enzyme in the lower part of gamma (PHKG2 gene). The lack of this enzyme leads to hepatomegaly (carcinary growth), hypoglycemia (low blood sugar) and growth retardation by disrupting the conversion of glycogen in the liver. The disease is autozomal resesif inherited and usually gives a symptom in childhood; blood sugar levels are studied to be kept under control with frequent nutrition and starch supplement in the treatment.
❓ What is glycogen storage disease IXc in Turkish?
The Turkish equivalent of "glycogen storage disease IXc" is Glikojen Depo Hastalığı Tip IXc.
❓ Which medical field is Glikojen Depo Hastalığı Tip IXc related to?
This term belongs to the Diseases category.