Child with recurrent hypoglycemic attack and hepatomegaly is likely to have -
Ans. is 'a' i.e., Von Gierke's disease Recurrent hypoglycemic attack with hepatomegaly is seen in Type I glycogen storage disease (Von Gierke disease). Glycogen storage diseases o Glycogen storage diseases result from a hereditary deficiency of one of the enzymes involved in the synthesis or sequential degradation of glycogen. o Clinical features depend on type of enzyme deficiency and organ involvement. o Glycogen storage diseases can be divided into :? 1) Hepatic form (Liver glycogenoses) Liver is the key player in glycogen metabolism. It contains enzymes that synthesize glycogen for storage and ultimately break it down into free glucose, which is then released into blood. So, An inherited deficiency of hepatic enzymes that are involved in glycogen metabolism leads to i) Storage of glycogen in liver Hepatomegaly. it) Reduction in blood glucose --) Hypoglycemia. Examples of liver glycogenoses are - i) Type I glycogenosis Glucose - 6 - phosphatase deficiency (Von Gierke disease). ii) Type III glycogenosis ----> Debranching enzyme def iii) Type IV glycogenesis ----> Branching enzyme def iv) Type VI glycogenosis --> Liver phosphorylase def 2) Myopathic form (Muscular glycogenoses) In skeletal muscle, as apposed to the liver, glycogen is used predominantly as a source of energy. This is derived by glycolysis, which leads ultimately to the formation of lactate. So, enzyme deficiency leads to ? i) Glycogen deposition in muscle Muscle cramp after exercise iii) Exercise - induced rise in blood lactase levels owing to block in glycolysis iv) There may be myoglobinemia Examples are ? i) Type V glycogenosis --> phosphorylase deficiency (McArdle disease). ii) Type VII glycogenosis --> phosphofructokinase del 3) Miscellaneous types Associated with glycogen storage in many organs and death in early life. Examples Type II glycogenosis Acid maltase deficiency (Pompe's disease)
Von Gierke's disease
Neonatal diabetes
Neonatal hepatitis
Galactosemia