Which autosomal recessive liver disorder is associated with abnormal carbohydrate metabolism?

Glycogen Storage Disease is indeed the correct answer because it encompasses a group of inherited metabolic disorders where the body cannot properly store and utilize glycogen, a form of carbohydrate. In individuals with this autosomal recessive condition, specific enzyme deficiencies lead to an abnormal accumulation of glycogen in the liver and other tissues, which can adversely affect liver function and result in symptoms such as hepatomegaly (enlargement of the liver) and hypoglycemia (low blood sugar).

For example, in Pompe disease, which is a type of Glycogen Storage Disease, there is a deficiency of the enzyme acid alpha-glucosidase, resulting in glycogen accumulation in lysosomes. In the case of Von Gierke disease, the deficiency involves glucose-6-phosphatase, which leads to severe hypoglycemia due to the inability to convert glycogen back to glucose. The relationship between these enzyme deficiencies and abnormal carbohydrate metabolism is key to understanding this disorder.

In contrast, cirrhosis is not a specific disorder but rather a consequence of various liver diseases that lead to scarring and liver dysfunction. Wilson's Disease is primarily associated with copper accumulation rather than carbohydrate metabolism. Lastly, Hemochromatosis is linked to iron