Why does von Gierke's glycogen storage disease (Box 16-2 )...

Key Concepts

Glycogen Storage Disease Type I (von Gierke's Disease)

This is a metabolic disorder caused by a deficiency in glucose-6-phosphatase, an enzyme required for the final step in gluconeogenesis and glycogenolysis. The enzyme defect prevents the normal production of free glucose, leading to a host of metabolic disturbances including hypoglycemia, lactic acidosis, and hyperuricemia.

Glucose-6-Phosphatase Deficiency

The deficiency of glucose-6-phosphatase in von Gierke's disease results in glucose-6-phosphate accumulating inside liver cells. This accumulation forces the metabolism to divert into other pathways, such as increased glycolysis and subsequent lactate production, which in turn contributes to metabolic acidosis and interferes with other metabolic processes.

Hyperuricemia

Hyperuricemia, which is an elevated level of uric acid in the blood, arises in von Gierke's disease due to increased production of uric acid and reduced renal excretion. The high levels of lactate produced as a consequence of the enzyme deficiency compete with urate for excretion in the kidneys, thereby promoting an accumulation of uric acid.

Gout

Gout is an inflammatory arthritis characterized by the deposition of monosodium urate crystals in joints due to hyperuricemia. In von Gierke's disease, the metabolic disturbances, particularly the elevated uric acid levels, predispose patients to the development of gout by creating the conditions necessary for crystal formation and joint inflammation.

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