Dietary Therapy for Von Gierke’s Disease: A Case Report
نویسندگان
چکیده
Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seven-month-old female infant who was admitted for abdominal distension, vomiting, and lethargy for a duration of four months with characteristic rounded doll's face, fatty cheeks, protuberant abdomen, and massive hepatomegaly. Lab investigations showed low hemoglobin, low blood sugar level, lactic acidosis, hyperlipidemia, hyperuricemia, mild elevation of liver enzymes, and high anion gap metabolic acidosis. The diagnosis was confirmed with a liver biopsy and dietary treatment was started. This case report highlights the value of dietary therapy in improving the quality of life and survival and minimizing complications.
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