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What is An infant has hepatorenomegaly, hypoglycemia, hyperlipidemia, acidosis and normal structured glycogen deposition in liver. What is the diagnosis ? and explain in detail?
Ans. is 'b' i.e., Von Gierke's disease Von-Gierke disease (Type I glvcogenosis) o It is an autosomal recessive disorder. o It is due to absent or deficient activity of glucose-6-phosphatase in Liven Kidney, Intestinal mucosa o It can be divided into two subtypes ? i) Type Ia glucose - 6 - phosphatase is defective ii) Type Ib Translocase is defective (translocase transpos glucose-6-phosphatase across microsomal membrane).