Glycogen storage disease type 1a: a new genetic mutation found in Sri Lanka

Glycogen storage disease type 1 (GSD 1) is an autosomal recessive metabolic disorder centred in the liver. In 1929 von Gierke provided the initial description of GSD 1 from autopsy reports of 2 children whose very large livers contained excessive glycogen 1 . In children with GSD1, a specific enzyme that breaks down glycogen is absent or deficient in hepatocytes. The subtype GSD1a is caused by deficient activity of the enzyme glucose-6phosphatase representing at least 14 distinct allelic variants. Due to the missing enzyme the body cannot generate glucose from glycogen and it is difficult to maintain normal blood sugar levels between meals without constant feeding. As a result of abnormal pathways of metabolism getting activated, elevated levels of lactate, lipids and uric acid occur. Because of abnormal accumulation of glycogen, hepatomegaly and renal enlargement can occur. The condition can cause metabolic acidosis and respiratory distress after a overnight fast 2 .