Çocuk Sağlığı ve Hastalıkları

Authors : Halit ÖZKAYA, Gökhan AYDEMİR, Abdullah Barış AKCAN, Mustafa KUL, Seçil AYDINÖZ, Selami SÜLEYMANOĞLU

Pages : 110-112

View : 26 | Download : 10

Publication Date : 2011-06-01

Article Type : Other Papers

Abstract :Familial heterozygous hypobetalipoproteinemia FHBL , ıs a hereditary disorder of the metabolism of apolipoprotein. Heterozygous and homozygous form is available. Heterozygous form, 1 / 500; homozygous form 1/1.000.000 often found. Symptoms of homozygous individuals can be deleted with age. Heterozygous individuals is usually asymptomatic. Heterozygous patients with low plasma total cholesterol levels and LDL-cholesterol levels of 50 mg / dl is equal to or lower than that. The result is impaired absorption of fats and fat-soluble vitamins and chronic diarrhea, growth retardation, and degenerative neurological diseases occur. These clinical findings are more in homozygous form. Seven-year-old girl with foul-smelling, frothy stools, was admitted to our outpatient clinic with complaints of gait and balance disorders. Physical examination of the patient deep tendon reflexes were absent. Laboratory examination of the apoB, total cholesterol, LDLcholesterol levels were lower. Patient diagnosed with heterozygous familial hipobetalipoproteinemia, normally encountered in determination of fat intolerance and neurological findings was remarkable. This is attributed to an autosomal codominant inheritance
Keywords : familial heterozygous hypobetalipoproteinemia, apolipoprotein, cholesterol