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Von Gierke disease

Von Gierke disease is an inherited metabolic disorder in which the body is unable to produce the glucose-6-phosphatase enzyme. This enzyme is required in the liver for the body to convert stored carbohydrates (glycogen) into simple sugar (glucose) which cells are able to metabolize. more...

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A steady source of glucose is necessary for the body to function properly, and when that is inhibited by this disorder symptoms include hypoglycemia, inability to tolerate fasting, stunted growth, delayed or underdeveloped puberty, enlarged liver, kidney stones, kidney failure, gout, easy bruising, and nosebleeds.

Treatment involves continuous feeding of foods rich in starches and simple sugars. While sleeping patients must use a feeding tube. Drugs are also administered to decrease the risk of developing gout. With treatment, developmental problems and the risk of more serious symptoms has decreased significantly.

Like cystic fibrosis and sickle cell anemia, Von Gierke disease is autosomal recessive. Commonly both parents will be healthy, but they each carry a single copy of the mutated gene responsible for the disease.

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Lactic acid test
From Gale Encyclopedia of Medicine, 4/6/01 by Janis O. Flores

Definition

Lactic acid is a weak acid produced by cells during chemical processes in the body that do not require oxygen (anaerobic metabolism). Anaerobic metabolism occurs only when too little oxygen is present for the more usual aerobic metabolism. Lactic acid is a contributing factor in muscle cramps. It is also produced in tissues when conditions such as heart attack or shock reduce the blood supply responsible for carrying oxygen. Normally, lactic acid is removed from the blood by the liver. When an excess of lactic acid accumulates for any reason, the result is a condition called lactic acidosis.

Purpose

The lactic acid test is used as an indirect assessment of the oxygen level in tissues and to determine the cause and course of lactic acidosis.

Precautions

During blood collection, the patient should be instructed to relax the hand. Clenching and unclenching the fist will cause a build-up of potassium and lactic acid from the hand muscles that will falsely elevate the levels.

Description

The degree of acidity is an important chemical property of blood and other body fluids. Acidity is expressed on a pH scale where 7.0 is neutral, above 7.0 is basic (alkaline), and below 7.0 is acidic. A strong acid has a very low pH (near 1.0). A strong base has a very high pH (near 14.0). Blood is normally slightly alkaline or basic. It has a pH range of 7.35-7.45. The balance of acid to base in blood is precisely controlled. Even a minor deviation from the normal range can severely affect many organs.

Lactic acid (present in the blood as lactate ion) is a product of the breakdown of glucose to generate energy. It is found primarily in muscle cells and red blood cells. The lactate concentration in the blood depends on the rates of energy production and metabolism. Levels may increase significantly during exercise.

Together, lactate and another substance called pyruvate form a reversible reaction regulated by the oxygen supply to the blood and tissues. When oxygen levels are deficient, pyruvate converts to lactate; when they are adequate, lactate converts to pyruvate. When the liver fails to metabolize lactose sufficiently or when too much pyruvate converts to lactate, lactic acidosis occurs. Measurement of blood lactate levels is recommended for all patients with symptoms of lactic acidosis. Testing is generally indicated if the blood pH level falls below 7.25-7.35.

Because of the close relationship between pyruvate and lactate, comparison of blood levels of the two substances can provide reliable information about tissue oxidation. However, pyruvate measurement is technically difficult and seldom performed. Lactic acid is measured more often, in either venous or arterial blood samples.

Preparation

This test requires a blood sample. The patient should have nothing to eat or drink (fasting) from midnight the night before the test. Because lactic acid is produced by exertion, the patient should rest for at least one hour before the test.

Risks

Risks for this test are minimal. The patient may experience slight bleeding from the blood-drawing site, fainting or feeling lightheaded after puncture of the vein (venipuncture), or an accumulation of blood under the puncture site (hematoma).

Normal results

Reference values vary from laboratory to laboratory but can be found within the following ranges:

  • Venous blood: 4.5-19.8 mg/dL
  • Arterial blood: 4.5-14.4 mg/dL.

Abnormal results

High blood lactate levels, together with decreased oxygen in tissues, may be caused by strenuous muscle exercise, shock, hemorrhage, severe infection in the blood stream, heart attack, or cardiac arrest. When tissue oxygenation is low for no apparent reason, increased lactate levels may be caused by systemic disorders like diabetes, leukemia, liver disease, or kidney failure. Defects in enzymes may also be responsible, as in glycogen storage disease (von Gierke's disease). Lactate is also increased in certain instances of intestinal obstruction.

Lactic acidosis can be caused by taking large doses of acetaminophen and alcohol and by intravenous infusion of epinephrine, glucagon, fructose, or sorbitol. Antifreeze poisoning can also cause lactic acidosis. In rare instances, a diabetic medication, metformin (Glucophage), causes lactic acidosis. People with weak kidneys should not take metformin.

Key Terms

Acidosis
A disturbance of the balance of acid to base in the body causing an accumulation of acid or loss of alkali (base). There are two types of acidosis: metabolic and respiratory. One of the most common causes of metabolic acidosis is an overdose of aspirin. Respiratory acidosis is caused by impaired breathing caused by conditions such as severe chronic bronchitis, bronchial asthma, or airway obstruction.

Further Reading

For Your Information

    Books

  • Cahill, Mathew. Handbook of Diagnostic Tests. Springhouse, Pennsylvania: Springhouse Corporation, 1995.
  • Jacobs, David S., ed. Laboratory Test Handbook. 4th ed. Hudson, Ohio: Lexi-Comp Inc., 1996.
  • Pagana, Kathleen Deska, and Timothy James Pagana. Mosby's Manual of Diagnostic and Laboratory Tests. St. Louis: Mosby, Inc., 1998.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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