Contents
Why does von Gierke cause lactic acidosis?
Von Gierke’s disease (described by von Gierke in 1929) represents the largest group of glycogen storage disorders (GSDs). There is an enzyme defect in glucose-6-phosphatase so that glucose-6-phosphate cannot be converted into free glucose but is metabolised to lactic acid or incorporated into glycogen.
Does hypoglycemia cause lactic acidosis?
Type B lactic acidosis is the nonhypoxic form. It occurs in the face of adequate oxygen delivery when mitochondrial oxidative function is abnormal. This can occur with drugs or toxins, hypoglycemia, diabetes mellitus, liver failure, renal failure, lymphosarcoma, sepsis, and inborn errors of metabolism (Box 60-1).
What enzyme is deficient in von Gierke disease?
In GSD Ia, there is a deficiency of enzyme glucose-6-phosphatase (G6Pase) which cleaves glycogen to glucose thus leading to hypoglycemia and lactic acidosis.
What causes ketosis in von Gierke disease?
Oral tolerance tests on a patient deficient in debranching enzyme showed that the blood levels of glucose and ketone bodies changed in the opposite direction. It is argued that, for biochemical reasons, the occurrence of ketosis in patients with a glucose-6-phosphatase deficiency is improbable.
Can hyperglycemia cause lactic acidosis?
Hypotension, hypothermia, cardiac dysrhythmias, and respiratory failure may also occur in severe metformin-associated lactic acidosis. Blood glucose levels may be low, normal, or high in diabetic subjects and lactic acidosis may also accompany ketoacidosis.
How is von Gierke disease treated?
The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth to increase their carbohydrate intake.
How is von Gierke disease related to glycogen storage?
Von Gierke disease is an autosomal recessive disorder caused by a deficiency of the enzyme glucose-6-phosphate translocase, which transports glucose-6-phosphate into the endoplasmic reticulum for further metabolism. In glycogen storage disease type 1b (GSD-1b), glucose-6-phosphate accumulates intracellularly.
Which is a symptom of von Gierke’s disease?
During the neonatal period, Von Gierke’s Disease may manifest the symptom of lactic acidosis. Lactic acidosis is a condition in which there is an accumulation of lactic acid within the blood stream.
What causes Type Ia and Type Ib in von Gierke?
Glucose-6-phosphatase deficiency is the cause of type Ia and should not be confused with glucose-6-phosphate dehydrogenase deficiency. There is a specific translocase deficiency in type Ib. Individuals with type lb also have altered neutrophil function predisposing them to Gram-positive bacterial infections.
When to consider liver transplantation for von Gierke’s?
Although there is substantial morbidity, partial hepatectomy may be an effective intermediate step to prevent hepatocellular carcinoma until definitive treatment with liver transplantation is possible. Liver transplantation is a final resort when conservative measures have failed or with malignant change of hepatic adenomas.