SAT-578 A Rare Case of Laboratory Hypertriglyceridemia: Glycerol Kinase Deficiency
نویسندگان
چکیده
منابع مشابه
A Case of Isolated Glycerol Kinase Deficiency
The patient was born at term to non-consanguineous parents following a normal pregnancy, and there was no past medical history of note. He presented at 2.5 years of age following a one day history of diarrhoea, vomiting and pyrexia. On arrival at the Accident and Emergency department he was floppy and unresponsive, except to painful stimuli, however there were no abnormal movements. He was main...
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We present a 34-year-old man with combination of beta thalassemia intermedia and coagulation factor VII deficiency who was presented with pallor and irregular nose bleeding episodes. On physical examination, he had splenomegaly and yellow sclera. Pallor and splenomegaly could be reminder of thalassemic syndromes or hemoglobinopathies including thalassemia intermedia. Association with unusual bl...
متن کاملThe diagnostic difficulties of complex glycerol kinase deficiency.
We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. These patients illustrate the importance of genetic testing ...
متن کاملA Rare Case of Neonatal Birth with Congenital Bilateral Femoral Deficiency Undetected in Prenatal Ultrasound
Background:Prenatal ultrasound plays an important role in the early and accurate evaluation of the congenital skeletal and non-skeletal abnormalities of the fetus and is effective in predicting pregnancy outcomes. Congenital femoral deficiency (CFD) is a rare complicated and non-hereditary anomaly that includes the hypoplasia of a portion of the femoral bone with shortening the lower limb. Cas...
متن کاملBrief Communication The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency
We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. These patients illustrate the importance of genetic testing ...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.075